MCID: HRD113
MIFTS: 19

Hereditary Acrokeratotic Poikiloderma, Weary Type

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hereditary Acrokeratotic Poikiloderma, Weary Type

Summaries for Hereditary Acrokeratotic Poikiloderma, Weary Type

MalaCards based summary : Hereditary Acrokeratotic Poikiloderma, Weary Type, is also known as congenital poikiloderma with bullae, weary type. An important gene associated with Hereditary Acrokeratotic Poikiloderma, Weary Type is FERMT1 (Fermitin Family Member 1). Affiliated tissues include skin and bone, and related phenotypes are finger syndactyly and hearing impairment

Wikipedia : 76 Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary",) is a rare... more...

Related Diseases for Hereditary Acrokeratotic Poikiloderma, Weary Type

Symptoms & Phenotypes for Hereditary Acrokeratotic Poikiloderma, Weary Type

Human phenotypes related to Hereditary Acrokeratotic Poikiloderma, Weary Type:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
2 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
3 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
4 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
5 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
6 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
7 opacification of the corneal stroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0007759
8 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
9 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
10 abnormality of the hip bone 59 32 occasional (7.5%) Occasional (29-5%) HP:0003272
11 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
12 abnormality of the renal tubule 59 32 occasional (7.5%) Occasional (29-5%) HP:0000091
13 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
14 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
15 abnormality of the metacarpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0001163
16 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
17 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
18 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
19 turricephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000262
20 gingivitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000230
21 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
22 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
23 gingival bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0000225
24 eczema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000964
25 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
26 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
27 abnormality of the urethra 59 32 occasional (7.5%) Occasional (29-5%) HP:0000795
28 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
29 trismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000211
30 abnormality of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0011024
31 abnormal pigmentation of the oral mucosa 59 32 frequent (33%) Frequent (79-30%) HP:0100669
32 ectropion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000656
33 dystrophic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001810
34 dystrophic fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0008391
35 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
36 oral leukoplakia 59 32 frequent (33%) Frequent (79-30%) HP:0002745
37 abnormality of the preputium 59 32 frequent (33%) Frequent (79-30%) HP:0100587
38 pustule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200039
39 palmoplantar hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0000972
40 ankyloglossia 59 32 frequent (33%) Frequent (79-30%) HP:0010296
41 premature loss of primary teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006323
42 keratoconjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001096
43 transitional cell carcinoma of the bladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0006740
44 abnormality of the dentition 59 Frequent (79-30%)
45 nail dystrophy 59 Very frequent (99-80%)
46 abnormality of the skeletal system 59 Occasional (29-5%)
47 abnormality of the skull 59 Frequent (79-30%)

Drugs & Therapeutics for Hereditary Acrokeratotic Poikiloderma, Weary Type

Search Clinical Trials , NIH Clinical Center for Hereditary Acrokeratotic Poikiloderma, Weary Type

Genetic Tests for Hereditary Acrokeratotic Poikiloderma, Weary Type

Anatomical Context for Hereditary Acrokeratotic Poikiloderma, Weary Type

MalaCards organs/tissues related to Hereditary Acrokeratotic Poikiloderma, Weary Type:

41
Skin, Bone

Publications for Hereditary Acrokeratotic Poikiloderma, Weary Type

Variations for Hereditary Acrokeratotic Poikiloderma, Weary Type

Expression for Hereditary Acrokeratotic Poikiloderma, Weary Type

Search GEO for disease gene expression data for Hereditary Acrokeratotic Poikiloderma, Weary Type.

Pathways for Hereditary Acrokeratotic Poikiloderma, Weary Type

GO Terms for Hereditary Acrokeratotic Poikiloderma, Weary Type

Sources for Hereditary Acrokeratotic Poikiloderma, Weary Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....