ORPHA:731
Autosomal recessive polycystic kidney disease
Synonyms: AR-PKD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive polycystic kidney disease | AR-PKD |
| fr | Polykystose rénale autosomique récessive | = en |
| de | Nierenkrankheit, polyzystische, autosomal-rezessive | ARPKD · Nierenkrankheit, polyzystische, infantile Form · Nierenkrankheit, polyzystische, rezessive |
| es | Enfermedad renal poliquística autosómica recesiva | = en |
| it | Rene policistico autosomico recessivo | |
| nl | Autosomaal recessieve polycystische nierziekte | = en |
| pt | Doença renal poliquística autossómica recessiva | |
| pl | Autosomalna recesywna wielotorbielowatość nerek | = en |
| cs | Autozomálně recesivní polycystická nemoc ledvin | Autozomálně recesivní polycystóza ledvin |
| uk | Аутосомно-рецесивна полікістозна хвороба нирок | = en |
| zh | 常染色体隐性遗传多囊肾 | = en |
| tr | Otozomal resesif polikistik böbrek hastalığı | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 263200 | BTNT | validated | |
| OMIM | 617610 | BTNT | validated | |
| ICD-10 | Q61.1 | E | specific | validated |
| ICD-11 | GB8Y | NTBT | index | validated |
| MONDO | 0009889 | E | validated | |
| MeSH | D017044 | E | validated | |
| UMLS | C0085548 | E | validated | |
| GARD | 8378 | E | validated | |
| MedDRA | 10036047 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:399824Rare disorder with obstructive azoospermia
rare infertility disorders - ORPHA:400003Rare genetic disorder with obstructive azoospermia
rare genetic diseases - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DZIP1L | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26551 | ENSG00000158163 | 617570 | 3q22.3 | DAZ interacting zinc finger protein 1 like | 28530676[PMID] |
| PKHD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9016 | ENSG00000170927 | 606702 | 6p12.3-p12.2 | PKHD1 ciliary IPT domain containing fibrocystin/polyductin | 20301501[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Germany | Value and class | Validated | [EXPERT]_9511976[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
51 annotations · validated 2020-03-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000105 | Enlarged kidney | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0000822 | Hypertension | |
| HP:0001405 | Periportal fibrosis | |
| HP:0000113 | Polycystic kidney dysplasia | |
| Frequent (79-30%) | ||
| HP:0011040 | Abnormality of the intrahepatic bile duct | |
| HP:0006560 | Biliary hyperplasia | |
| HP:0001396 | Cholestasis | |
| HP:0002612 | Congenital hepatic fibrosis | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0002040 | Esophageal varix | |
| HP:0002630 | Fat malabsorption | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0001971 | Hypersplenism | |
| HP:0002902 | Hyponatremia | |
| HP:0012202 | Increased serum bile acid concentration | |
| HP:0004905 | Low levels of vitamin A | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0100513 | Low levels of vitamin E | |
| HP:0011892 | Low levels of vitamin K | |
| HP:0001562 | Oligohydramnios | |
| HP:0001409 | Portal hypertension | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0005565 | Reduced renal corticomedullary differentiation | |
| HP:0000083 | Renal insufficiency | |
| HP:0002878 | Respiratory failure | |
| HP:0001744 | Splenomegaly | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| Occasional (29-5%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0001541 | Ascites | |
| HP:0030151 | Cholangitis | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002884 | Hepatoblastoma | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0002791 | Hypoventilation | |
| HP:0000952 | Jaundice | |
| HP:0100520 | Oliguria | |
| HP:0001959 | Polydipsia | |
| HP:0002243 | Protein-losing enteropathy | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0001873 | Thrombocytopenia | |
| Very rare (<4-1%) | ||
| HP:0040064 | Abnormality of limbs | |
| HP:0030153 | Cholangiocarcinoma | |
| HP:0100543 | Cognitive impairment | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0001737 | Pancreatic cysts | |
| HP:0002108 | Spontaneous pneumothorax | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301501[PMID]_25689455[PMID]_28530676[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/731
- This record as JSON: /data/d/731.json