FANCONI ANEMIA, COMPLEMENTATION GROUP P

General Information (adopted from Orphanet):

Synonyms, Signs: FANCP
Number of Symptoms 32
OrphanetNr:
OMIM Id: 613951
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
2
(HPO:0008689) Bilateral cryptorchidism 38 / 7739
3
(HPO:0000085) Horseshoe kidney rare [HPO:skoehler] 39 / 7739
4
(HPO:0000125) Pelvic kidney rare [HPO:skoehler] 10 / 7739
5
(HPO:0000581) Blepharophimosis rare [HPO:skoehler] 197 / 7739
6
(HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
7
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
8
(HPO:0000414) Bulbous nose rare [HPO:skoehler] 63 / 7739
9
(HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
10
(HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
11
(HPO:0000377) Abnormality of the pinna 111 / 7739
12
(HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
13
(HPO:0009658) Aplasia/Hypoplasia of the phalanges of the thumb 4 / 7739
14
(HPO:0009778) Short thumb rare [HPO:skoehler] 50 / 7739
15
(HPO:0002984) Hypoplasia of the radius rare [HPO:skoehler] 44 / 7739
16
(HPO:0009777) Absent thumb rare [HPO:skoehler] 31 / 7739
17
(HPO:0009601) Aplasia/Hypoplasia of the thumb 80 / 7739
18
(HPO:0004322) Short stature 1232 / 7739
19
(HPO:0001510) Growth delay 295 / 7739
20
(HPO:0001045) Vitiligo rare [HPO:skoehler] 13 / 7739
21
(HPO:0002860) Squamous cell carcinoma rare [HPO:skoehler] 18 / 7739
22
(HPO:0000957) Cafe-au-lait spot 84 / 7739
23
(HPO:0001876) Pancytopenia 89 / 7739
24
(HPO:0001903) Anemia 289 / 7739
25
(HPO:0012745) Short palpebral fissure rare [HPO:skoehler] 47 / 7739
26
(OMIM) Narrow external ear canals (1 patient) 3 / 7739
27
(OMIM) Almond-shaped eyes 12 / 7739
28
(OMIM) Hypoplastic malleus (1 patient) 1 / 7739
29
(OMIM) Thrombocytopenia, isolated (1 patient) 1 / 7739
30
(HPO:0003828) Variable expressivity 130 / 7739
31
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
32
(OMIM) Hypopigmentation spots 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).

For a general description ...

Clinical Description OMIM Stoepker et al. (2011) reported a Dutch boy, born of consanguineous parents, with growth retardation, microcephaly, hypopigmentation, thumb abnormalities, and hearing loss who was diagnosed with pancytopenia at age 9 years. He also had some dysmorphic facial features, ...
Molecular genetics OMIM In a Dutch boy, born of consanguineous parents, with FANCP, Stoepker et al. (2011) identified a homozygous truncating mutation in the SLX4 gene (613278.0001). The gene was chosen for study because of its known function as a scaffold ...