FDH
MCID: FCL009
MIFTS: 58

Focal Dermal Hypoplasia (FDH) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases categories
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Summaries for Focal Dermal Hypoplasia

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NIH Rare Diseases:42 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. most individuals with this condition are female. males usually have milder signs and symptoms than females. although intelligence is typically unaffected, some individuals have intellectual disability. this condition is caused by mutations in the porcn gene and is inherited in an x-linked dominant manner. most cases of focal dermal hypoplasia in females result from new mutations in the porcn gene and occur in people with no history of the disorder in their family. when focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. last updated: 9/23/2011

MalaCards based summary: Focal Dermal Hypoplasia, also known as goltz syndrome, is related to microphthalmia and nevoid basal cell carcinoma syndrome, and has symptoms including tooth shape anomaly, anodontia/oligodontia/hypodontia and enamel anomaly. An important gene associated with Focal Dermal Hypoplasia is PORCN (porcupine homolog (Drosophila)), and among its related pathways are beta-catenin independent WNT signaling and Wnt Pathway. Affiliated tissues include skin, eye and kidney, and related mouse phenotype adipose tissue.

Genetics Home Reference:21 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.

Wikipedia:65 Focal dermal hypoplasia (also known as \"Goltz syndrome\") is a form of ectodermal dysplasia. It is a... more...

Description from OMIM:46 305600

GeneReviews summary for focal-dh

Aliases & Classifications for Focal Dermal Hypoplasia

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Focal Dermal Hypoplasia, Aliases & Descriptions:

Name: Focal Dermal Hypoplasia 8 9 19 42 20 22 21 46 10 48 62
Goltz Syndrome 8 19 42 21 48
Goltz-Gorlin Syndrome 19 21 48
Goltz Gorlin Syndrome 42
 
Dhof 42
Fodh 42
Fdh 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
focal dermal hypoplasia:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:2120
NCIt39 C84715
OMIM46 305600
MeSH34 D005489
SNOMED-CT57 2298005, 205573006
MESH via Orphanet35 D005489
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet63 C0016395

Related Diseases for Focal Dermal Hypoplasia

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Graphical network of the top 20 diseases related to Focal Dermal Hypoplasia:



Diseases related to focal dermal hypoplasia

Symptoms for Focal Dermal Hypoplasia

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Symptoms by clinical synopsis from OMIM:

305600

Clinical features from OMIM:

305600

Symptoms:

48 (show all 70)
  • tooth shape anomaly
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • anomalies of ear and hearing
  • low set ears/posteriorly rotated ears
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • herniae
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • anomalies of hands
  • syndactyly of fingers/interdigital palm
  • upper limb polydactyly/hexadactyly
  • oligodactyly/ectrodactyly of fingers
  • camptodactyly of fingers
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • oligodactyly/ectrodactyly of toes
  • syndactyly of toes
  • skin hypoplasia/aplasia/atrophy
  • macules
  • thin skin
  • anetodermia/dermal atrophy
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • telangiectasiae of the skin
  • warts/papillomas
  • nails anomalies
  • rough trabeculation of bone
  • epiphyseal anomaly
  • x-linked dominant inheritance
  • early death/lethality
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • dental malocclusion
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • aniridia/iris hypoplasia
  • coloboma of iris
  • corneal clouding/opacity/vascularisation
  • lens dislocation/luxation/subluxation/ectopia lentis
  • choroidal anomalies/atrophy/choroideremia
  • strabismus/squint
  • anomalies of teeth and dentition
  • clavicle absent/abnormal
  • anomalies of the ribs
  • scoliosis
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • skin tumors/lumps/epidermal cysts
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • alopecia
  • ectopic/horseshoe/fused kidneys
  • multicystic kidney/renal dysplasia
  • spina bifida
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • pointed chin
  • narrow nasal bridge
  • omphalocele/exomphalos
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • duodenal atresia/stenosis/megaduodenum
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • acute abdominal pain/colic
  • acute hepatic failure
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • diaphragmatic hernia/defect/agenesis
  • mediastinal anomalies
  • cardiac septal defect
  • ventricular septal defect/interventricular communication
  • patent ductus arteriosus
  • pulmonary veins anomalies
  • agenesis/hypoplasia/aplasia of kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • abnormal fat distribution/lipodystrophy

HPO human phenotypes related to Focal Dermal Hypoplasia:

(show all 135)
id Description Frequency HPO Source Accession
1 hearing abnormality hallmark (90%) HP:0000364
2 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
3 abnormality of the middle ear hallmark (90%) HP:0000370
4 abnormality of dental enamel hallmark (90%) HP:0000682
5 thin skin hallmark (90%) HP:0000963
6 hypermelanotic macule hallmark (90%) HP:0001034
7 hand polydactyly hallmark (90%) HP:0001161
8 split hand hallmark (90%) HP:0001171
9 abnormality of the nail hallmark (90%) HP:0001597
10 toe syndactyly hallmark (90%) HP:0001770
11 split foot hallmark (90%) HP:0001839
12 dermal atrophy hallmark (90%) HP:0004334
13 abnormality of the epiphyses hallmark (90%) HP:0005930
14 finger syndactyly hallmark (90%) HP:0006101
15 abnormality of dental morphology hallmark (90%) HP:0006482
16 reduced number of teeth hallmark (90%) HP:0009804
17 camptodactyly of finger hallmark (90%) HP:0100490
18 lower limb asymmetry hallmark (90%) HP:0100559
19 teleangiectasia of the skin hallmark (90%) HP:0100585
20 rough bone trabeculation hallmark (90%) HP:0100670
21 verrucae hallmark (90%) HP:0200043
22 multicystic kidney dysplasia typical (50%) HP:0000003
23 facial asymmetry typical (50%) HP:0000324
24 strabismus typical (50%) HP:0000486
25 iris coloboma typical (50%) HP:0000612
26 dental malocclusion typical (50%) HP:0000689
27 abnormality of the ribs typical (50%) HP:0000772
28 abnormality of the clavicles typical (50%) HP:0000889
29 ectopia lentis typical (50%) HP:0001083
30 choroideremia typical (50%) HP:0001139
31 alopecia typical (50%) HP:0001596
32 spina bifida typical (50%) HP:0002414
33 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
34 scoliosis typical (50%) HP:0002650
35 opacification of the corneal stroma typical (50%) HP:0007759
36 aplasia/hypoplasia of the iris typical (50%) HP:0008053
37 abnormal localization of kidney typical (50%) HP:0100542
38 cognitive impairment typical (50%) HP:0100543
39 pointed chin occasional (7.5%) HP:0000307
40 narrow nasal bridge occasional (7.5%) HP:0000446
41 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
42 umbilical hernia occasional (7.5%) HP:0001537
43 omphalocele occasional (7.5%) HP:0001539
44 ventricular septal defect occasional (7.5%) HP:0001629
45 patent ductus arteriosus occasional (7.5%) HP:0001643
46 abdominal pain occasional (7.5%) HP:0002027
47 abnormality of the pulmonary vasculature occasional (7.5%) HP:0004930
48 acute hepatic failure occasional (7.5%) HP:0006554
49 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
50 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
51 abnormality of adipose tissue occasional (7.5%) HP:0009124
52 neoplasm of the skeletal system occasional (7.5%) HP:0010622
53 mediastinal lymphadenopathy occasional (7.5%) HP:0100721
54 duodenal stenosis occasional (7.5%) HP:0100867
55 inguinal hernia HP:0000023
56 cryptorchidism HP:0000028
57 clitoral hypoplasia HP:0000060
58 labial hypoplasia HP:0000066
59 ureteral duplication HP:0000073
60 horseshoe kidney HP:0000085
61 hydronephrosis HP:0000126
62 cleft palate HP:0000175
63 cleft upper lip HP:0000204
64 hydrocephalus HP:0000238
65 microcephaly HP:0000252
66 pointed chin HP:0000307
67 facial asymmetry HP:0000324
68 low-set ears HP:0000369
69 abnormality of the pinna HP:0000377
70 stenosis of the external auditory canal HP:0000402
71 mixed hearing impairment HP:0000410
72 narrow nasal bridge HP:0000446
73 broad nasal tip HP:0000455
74 strabismus HP:0000486
75 visual impairment HP:0000505
76 aniridia HP:0000526
77 anophthalmia HP:0000528
78 chorioretinal coloboma HP:0000567
79 microphthalmos HP:0000568
80 iris coloboma HP:0000612
81 nystagmus HP:0000639
82 optic atrophy HP:0000648
83 hypodontia HP:0000668
84 oligodontia HP:0000677
85 delayed eruption of teeth HP:0000684
86 dental malocclusion HP:0000689
87 short ribs HP:0000773
88 congenital diaphragmatic hernia HP:0000776
89 telangiectasia HP:0001009
90 ectopia lentis HP:0001083
91 postaxial hand polydactyly HP:0001162
92 split hand HP:0001171
93 oligodactyly (hands) HP:0001180
94 intellectual disability HP:0001249
95 agenesis of corpus callosum HP:0001274
96 congenital hip dislocation HP:0001374
97 joint laxity HP:0001388
98 x-linked dominant inheritance HP:0001423
99 umbilical hernia HP:0001537
100 omphalocele HP:0001539
101 diastasis recti HP:0001540
102 anteriorly placed anus HP:0001545
103 abnormality of the larynx HP:0001600
104 toe syndactyly HP:0001770
105 absent toenail HP:0001802
106 absent fingernail HP:0001817
107 foot polydactyly HP:0001829
108 split foot HP:0001839
109 oligodactyly (feet) HP:0001849
110 hiatus hernia HP:0002036
111 nail dysplasia HP:0002164
112 patchy alopecia HP:0002232
113 brittle hair HP:0002299
114 arnold-chiari malformation HP:0002308
115 myelomeningocele HP:0002475
116 hypoplastic nipples HP:0002557
117 supernumerary nipples HP:0002558
118 intestinal malrotation HP:0002566
119 scoliosis HP:0002650
120 cleft ala nasi HP:0003191
121 spina bifida occulta HP:0003298
122 short stature HP:0004322
123 dermal atrophy HP:0004334
124 hypoplasia of dental enamel HP:0006297
125 midclavicular hypoplasia HP:0006608
126 midclavicular aplasia HP:0006638
127 linear hyperpigmentation HP:0007546
128 reticular hyperpigmentation HP:0007588
129 sparse hair HP:0008070
130 short finger HP:0009381
131 short phalanx of finger HP:0009803
132 short metacarpal HP:0010049
133 osteopathia striata HP:0010740
134 short metatarsal HP:0010743
135 bifid ureter HP:0030037

Drugs & Therapeutics for Focal Dermal Hypoplasia

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Drug clinical trials:

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Search NIH Clinical Center for Focal Dermal Hypoplasia

Genetic Tests for Focal Dermal Hypoplasia

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Genetic tests related to Focal Dermal Hypoplasia:

id Genetic test Affiliating Genes
1 Focal Dermal Hypoplasia20 22 PORCN

Anatomical Context for Focal Dermal Hypoplasia

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MalaCards organs/tissues related to Focal Dermal Hypoplasia:

32
Skin, Eye, Kidney, Bone, Lung, Uterus

Animal Models for Focal Dermal Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Focal Dermal Hypoplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8WLS, IKBKG, PORCN

Publications for Focal Dermal Hypoplasia

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Articles related to Focal Dermal Hypoplasia:

(show top 50)    (show all 168)
idTitleAuthorsYear
1
Focal dermal hypoplasia without focal dermal hypoplasia. (24357603)
2013
2
Zygotic porcn paternal allele deletion in mice to model human focal dermal hypoplasia. (24223895)
2013
3
Spontaneous patella fracture presenting as osteomyelitis in focal dermal hypoplasia. (22000280)
2012
4
Epilepsy in a patient with focal dermal hypoplasia. (21215914)
2011
5
Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis. (21272558)
2011
6
Focal dermal hypoplasia in a male. (25386262)
2011
7
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. (20854095)
2010
8
Oral manifestations associated with focal dermal hypoplasia. (19321948)
2009
9
Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome). (19012972)
2009
10
Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. (17951029)
2008
11
Papillary adenoid hyperplasia in focal dermal hypoplasia. (18503862)
2008
12
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. (17546030)
2007
13
Wnt signaling in focal dermal hypoplasia. (17597772)
2007
14
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. (14699622)
2004
15
Melanocyte stimulation in focal dermal hypoplasia with unusual pigmented skin lesions: a histologic and immunohistochemical study. (12787276)
2003
16
Focal dermal hypoplasia: a case report and review of literature. (15008304)
2003
17
Focal dermal hypoplasia: management of complex dental features. (11497004)
2001
18
Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx. (10586128)
1999
19
A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations. (10028871)
1998
20
Focal dermal hypoplasia (Goltz's syndrome). (9361312)
1997
21
Electronmicroscopic observation of the basement membrane zone in focal dermal hypoplasia. (8919515)
1996
22
Focal dermal hypoplasia (Goltz syndrome). (20952892)
1995
23
Focal Dermal Hypoplasia (20301712)
1993
24
Focal dermal hypoplasia (Goltz syndrome): an adult case with multisystemic involvement. (8425976)
1993
25
Focal dermal hypoplasia (Goltz-Gorlin syndrome). (7654591)
1993
26
Focal dermal hypoplasia (Goltz syndrome): report of two cases with minor cutaneous and extracutaneous manifestations. (1318543)
1992
27
Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism. (1951439)
1991
28
Osteochondroma of humerus in focal dermal hypoplasia (Goltz) syndrome. (1794171)
1991
29
Anophthalmia in the focal dermal hypoplasia syndrome. (2404489)
1990
30
Focal dermal hypoplasia. (2080128)
1990
31
Focal dermal hypoplasia. Current concepts and differential diagnosis. (2778600)
1989
32
Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia. (3189414)
1988
33
The radiological features of Goltz syndrome: focal dermal hypoplasia. A report of two cases. (3201278)
1988
34
Multiple mesoectodermal defects in an infant. Focal dermal hypoplasia syndrome, or Goltz' syndrome. (3767408)
1986
35
Focal dermal hypoplasia syndrome. Case report and literature review. (6630607)
1983
36
Giant cell tumour of bone in focal dermal hypoplasia. (6883033)
1983
37
A case of focal dermal hypoplasia. (7083620)
1982
38
Focal dermal hypoplasia in a father and daughter. (7217396)
1981
39
Focal dermal hypoplasia: abnormal growth characteristics of skin fibroblasts in culture. (7410885)
1980
40
Osteopathia striata and focal dermal hypoplasia. (531586)
1979
41
Focal dermal hypoplasia syndrome (a case report). (700884)
1978
42
Focal dermal hypoplasia syndrome. The second known case in Japan. (686730)
1978
43
Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism? (843447)
1977
44
Focal dermal hypoplasia (Goltz's syndrome) manifesting as condyloma acuminatum: report of a case and review of the literature. (188606)
1977
45
Letter: Striated osteopathy in focal dermal hypoplasia. (1190805)
1975
46
Focal dermal hypoplasia. (4371807)
1974
47
Focal dermal hypoplasia (Goltz syndrome): a follow-up. (4375513)
1971
48
Picture of the month. Focal dermal hypoplasia (Goltz's syndrome). (4310577)
1969
49
Focal dermal hypoplasia. (5763557)
1969
50
FOCAL DERMAL HYPOPLASIA SYNDROME. (14051108)
1963

Variations for Focal Dermal Hypoplasia

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UniProtKB/Swiss-Prot genetic disease variations for Focal Dermal Hypoplasia:

64 (show all 15)
id Symbol AA change Variation ID SNP ID
1PORCNp.Gly60ArgVAR_035089
2PORCNp.Arg365GlyVAR_035090
3PORCNp.Ser136PheVAR_058899
4PORCNp.Gly168ArgVAR_058900
5PORCNp.Val258GluVAR_058902
6PORCNp.His341LeuVAR_058903
7PORCNp.Arg365GlnVAR_058904
8PORCNp.Cys385ArgVAR_058905
9PORCNp.Trp439ArgVAR_058906
10PORCNp.His252TyrVAR_065189
11PORCNp.Ser297LeuVAR_065190
12PORCNp.Leu331ArgVAR_065191
13PORCNp.Glu361ValVAR_065192
14PORCNp.Cys385TyrVAR_065193
15PORCNp.Ala374ProVAR_066061

Clinvar genetic disease variations for Focal Dermal Hypoplasia:

6
id Gene Name Type Significance SNP ID Assembly Location
1PORCNNM_203475.2(PORCN): c.1059_1071dupCCTGGCTTTTATC (p.Thr358Profs)duplicationPathogenicGRCh37Chr X, 48374313: 48374325
2PORCNNM_203473.2(PORCN): c.178G> A (p.Gly60Arg)single nucleotide variantPathogenicrs267606973GRCh37Chr X, 48369724: 48369724
3PORCNNM_203473.2(PORCN): c.370C> T (p.Arg124Ter)single nucleotide variantPathogenicrs137852218GRCh37Chr X, 48370320: 48370320
4PORCNNM_203473.2(PORCN): c.222G> A (p.Trp74Ter)single nucleotide variantPathogenicrs137852219GRCh37Chr X, 48369768: 48369768
5PORCNNM_203473.2(PORCN): c.1094G> A (p.Arg365Gln)single nucleotide variantPathogenicrs387906723GRCh37Chr X, 48374470: 48374470

Expression for genes affiliated with Focal Dermal Hypoplasia

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Expression patterns in normal tissues for genes affiliated with Focal Dermal Hypoplasia

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Pathways for genes affiliated with Focal Dermal Hypoplasia

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Pathways related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3WLS, PORCN
2
Show member pathways
9.3WLS, PORCN

Compounds for genes affiliated with Focal Dermal Hypoplasia

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GO Terms for genes affiliated with Focal Dermal Hypoplasia

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Cellular components related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MSL complexGO:0724879.3MSL2, MSL3

Biological processes related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone H4-K16 acetylationGO:0439849.3MSL2, MSL3
2chromatin organizationGO:0063259.2MSL2, MSL3
3positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.2WLS, IKBKG
4Wnt signaling pathwayGO:0160559.0WLS, PORCN

Products for genes affiliated with Focal Dermal Hypoplasia

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Sources for Focal Dermal Hypoplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet