MODY 5

Renal cysts and diabetes syndrome; MODY5
Classification and external resources
OMIM	137920

Renal cysts and diabetes syndrome (RCAD), also known as MODY 5, is a form of maturity onset diabetes of the young.

HNF1β-related MODY is one of the less common forms of MODY, with some distinctive clinical features, including atrophy of the pancreas and several forms of renal disease. HNF1β, also known as transcription factor 2 (TCF2), is involved in early stages of embryonic development of several organs, including the pancreas, where it contributes to differentiation of pancreatic endocrine Ngn3⁺ cell progenitors from non-endocrine embryonic duct cells. The gene is on chromosome 17q.^[1]

The degree of insulin deficiency is variable. Diabetes can develop from infancy through middle adult life, and some family members who carry the gene remain free of diabetes into later adult life. Most of those who develop diabetes show atrophy of the entire pancreas, with mild or subclincal deficiency of exocrine as well as endocrine function.

The non-pancreatic manifestations are even more variable. Kidney and genitourinary malformation and diseases may occur, but inconsistently even within a family, and the specific conditions include a range of apparently unrelated anomalies and processes. The most common genitourinary condition is cystic kidney disease, but there are many varieties even of this. Renal effects begin with structural alterations (small kidneys, renal cysts, anomalies of the renal pelvis and calices), but a significant number develop slowly progressive renal failure associated with chronic cystic disease of the kidneys. In some cases, renal cysts may be detected in utero. Kidney disease may develop before or after hyperglycemia, and a significant number of people with MODY5 are discovered in renal clinics.

With or without kidney disease, some people with forms of HNF1β have had various minor or major anomalies of the reproductive system. Male defects have included epididymal cysts, agenesis of the vas deferens, or infertility due to abnormal spermatozoa. Affected women have been found to have vaginal agenesis, hypoplastic, or bicornuate uterus.

Liver enzyme elevations are common, but clinically significant liver disease is not. Hyperuricaemia and early onset gout have occurred.

References

↑ Bingham C, Hattersley AT (November 2004). "Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta". Nephrol. Dial. Transplant. 19 (11): 2703–8. doi:10.1093/ndt/gfh348. PMID 15496559.

Diseases of the endocrine system (E00–E35, 240–259)

Pancreas/
glucose
metabolism

Hypofunction	Diabetes mellitus types: type 1 type 2 MODY 1 2 3 4 5 6 complications coma angiopathy ketoacidosis nephropathy neuropathy retinopathy cardiomyopathy insulin receptor (Rabson–Mendenhall syndrome) Insulin resistance

Hyperfunction	Hypoglycemia beta cell (Hyperinsulinism) G cell (Zollinger–Ellison syndrome)

Hypothalamic/
pituitary axes

Hypothalamus

gonadotropin
- Kallmann syndrome
- Adiposogenital dystrophy
CRH (Tertiary adrenal insufficiency)
vasopressin (Neurogenic diabetes insipidus)
general (Hypothalamic hamartoma)

Pituitary

Hyperpituitarism	anterior Acromegaly Hyperprolactinaemia Pituitary ACTH hypersecretion posterior (SIADH) general (Nelson's syndrome)

Hypopituitarism	anterior Kallmann syndrome Growth hormone deficiency Hypoprolactinemia ACTH deficiency/Secondary adrenal insufficiency GnRH insensitivity FSH insensitivity LH/hCG insensitivity posterior (Neurogenic diabetes insipidus) general Empty sella syndrome Pituitary apoplexy Sheehan's syndrome Lymphocytic hypophysitis

Thyroid

Hypothyroidism	Iodine deficiency Cretinism Congenital hypothyroidism Myxedema Euthyroid sick syndrome

Hyperthyroidism	Hyperthyroxinemia Thyroid hormone resistance Familial dysalbuminemic hyperthyroxinemia Hashitoxicosis Thyrotoxicosis factitia Graves' disease

Thyroiditis	Acute infectious Subacute De Quervain's Subacute lymphocytic Autoimmune/chronic Hashimoto's Postpartum Riedel's

Goitre	Endemic goitre Toxic nodular goitre Toxic multinodular goiter Thyroid nodule

Parathyroid

Hypoparathyroidism	Hypoparathyroidism Pseudohypoparathyroidism Pseudopseudohypoparathyroidism

Hyperparathyroidism	Primary Secondary Tertiary Osteitis fibrosa cystica

Adrenal

Hyperfunction	aldosterone: Hyperaldosteronism/Primary aldosteronism Conn syndrome Bartter syndrome Glucocorticoid remediable aldosteronism AME Liddle's syndrome 17α CAH cortisol: Cushing's syndrome (Pseudo-Cushing's syndrome) sex hormones: 21α CAH 11β CAH

Hypofunction/ Adrenal insufficiency (Addison's, WF)	aldosterone: Hypoaldosteronism 21α CAH 11β CAH cortisol: CAH Lipoid 3β 11β 17α 21α sex hormones: 17α CAH

Gonads

general: Hypogonadism (Delayed puberty)
Hypergonadism
- Precocious puberty
Hypoandrogenism
Hypoestrogenism
Hyperandrogenism
Hyperestrogenism
Postorgasmic illness syndrome

Height

Multiple

Autoimmune polyendocrine syndrome multiple
- APS1
- APS2
Carcinoid syndrome
Multiple endocrine neoplasia
- 1
- 2A
- 2B
Progeria
Woodhouse-Sakati syndrome

Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies

(1) Basic domains

1.2	Feingold syndrome Saethre–Chotzen syndrome

1.3	Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	(Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis

2.2	Barakat syndrome Tricho–rhino–phalangeal syndrome

2.3	Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2

2.5	Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 Synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome

3.2	PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3

3.3	FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX

3.5	IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	Hyperimmunoglobulin E syndrome

4.3	Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome

4.7	Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome

4.11	Cleidocranial dysostosis

(0) Other transcription factors

0.6	Kabuki syndrome

Ungrouped

Transcription coregulators

Coactivator:	CREBBP Rubinstein–Taybi syndrome

Corepressor:	HR (Atrichia with papular lesions)

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