MCID: ECT042
MIFTS: 33

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 malady

Genetic diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories

Summaries for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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OMIM:46 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3 (ECC3) is an autosomal dominant disorder comprising... (604292) more...

MalaCards based summary: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3, also known as eec syndrome, is related to eec syndrome and ectodermal dysplasia, and has symptoms including thick eyebrow, lacrimation abnormality and carious teeth. An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 is TP63 (tumor protein p63). Affiliated tissues include skin, eye and bone.

Description from OMIM:46 129900

Aliases & Classifications for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Sources:
48Orphanet, 46OMIM, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3, Aliases & Descriptions:

Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 46
Eec Syndrome 48 46 61
 
Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/palate 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
eec syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

ICD10 via Orphanet27 Q82.4
UMLS via Orphanet62 C0406704

Related Diseases for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1eec syndrome11.0
2ectodermal dysplasia10.8
3cleft lip10.6
4cleft palate10.4
5choanal atresia10.2
6ectrodactyly - ectodermal dysplasia without clefting10.2
7b-cell lymphomas10.1
8breast reconstruction10.1
9anodontia10.1
10diabetes insipidus10.1
11adult syndrome10.1
12trigeminal neuralgia10.1
13microphthalmia10.1
14hypogonadism10.1
15oligohydramnios10.1
16orofacial cleft10.1
17anophthalmia/microphthalmia10.1
18ectrodactyly and ectodermal dysplasia without cleft lip/palate10.1
19freire-maia odontotrichomelic syndrome10.1
20hydrops fetalis10.1
21limb-mammary syndrome10.1
22abdominal wall defect10.1
23eec syndrome-110.1
24monosomy 2110.1
25odontotrichomelic syndrome10.1
26split foot10.1
27split hand10.1

Graphical network of the top 20 diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:



Diseases related to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

Symptoms for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Symptoms by clinical synopsis from OMIM:

129900

Clinical features from OMIM:

129900,604292

Symptoms:

 48 (show all 50)
  • absent/decreased/thin eyebrows
  • thick/bushy eyebrows
  • defect/anomaly of lacrimal system
  • taurodontia
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • multiple caries
  • oligodactyly/ectrodactyly of fingers
  • oligodactyly/ectrodactyly of toes
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • dry/squaly skin/exfoliation
  • coarse/thick hair
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • autosomal dominant inheritance
  • corneal ulceration/perforation
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • photophobia
  • cleft lip and palate
  • skin hypoplasia/aplasia/atrophy
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • slow growth of the hair
  • agenesis/hypoplasia/aplasia of kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • ectropion/entropion/eyelid eversion
  • choanal atresia
  • mouth dryness/xerostomia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • external ear anomalies
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • breast tissue/mammary gland absence/aplasia
  • hypoplastic/absent nipples
  • syndactyly of fingers/interdigital palm
  • thumb hypoplasia/aplasia/absence
  • proximally set thumb
  • syndactyly of toes
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • fine hair
  • thymic aplasia/hypoplasia
  • vesicorenal/vesicoureteral reflux
  • hypospadias/epispadias/bent penis
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • lymphoma
  • short stature/dwarfism/nanism

HPO human phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

(show all 155)
id Description Frequency HPO Source Accession
1 thick eyebrow hallmark (90%) HP:0000574
2 lacrimation abnormality hallmark (90%) HP:0000632
3 carious teeth hallmark (90%) HP:0000670
4 taurodontia hallmark (90%) HP:0000679
5 abnormality of dental enamel hallmark (90%) HP:0000682
6 microdontia hallmark (90%) HP:0000691
7 dry skin hallmark (90%) HP:0000958
8 hyperkeratosis hallmark (90%) HP:0000962
9 split hand hallmark (90%) HP:0001171
10 abnormality of the fingernails hallmark (90%) HP:0001231
11 split foot hallmark (90%) HP:0001839
12 coarse hair hallmark (90%) HP:0002208
13 abnormality of the toenail hallmark (90%) HP:0008388
14 reduced number of teeth hallmark (90%) HP:0009804
15 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
16 photophobia typical (50%) HP:0000613
17 slow-growing hair typical (50%) HP:0002217
18 generalized hypopigmentation typical (50%) HP:0007513
19 aplasia/hypoplasia of the skin typical (50%) HP:0008065
20 renal hypoplasia/aplasia typical (50%) HP:0008678
21 inflammatory abnormality of the eye typical (50%) HP:0100533
22 corneal erosion typical (50%) HP:0200020
23 vesicoureteral reflux occasional (7.5%) HP:0000076
24 cleft palate occasional (7.5%) HP:0000175
25 xerostomia occasional (7.5%) HP:0000217
26 sensorineural hearing impairment occasional (7.5%) HP:0000407
27 choanal atresia occasional (7.5%) HP:0000453
28 abnormality of the eyelid occasional (7.5%) HP:0000492
29 anterior hypopituitarism occasional (7.5%) HP:0000830
30 hypohidrosis occasional (7.5%) HP:0000966
31 toe syndactyly occasional (7.5%) HP:0001770
32 fine hair occasional (7.5%) HP:0002213
33 lymphoma occasional (7.5%) HP:0002665
34 short stature occasional (7.5%) HP:0004322
35 finger syndactyly occasional (7.5%) HP:0006101
36 aplasia/hypoplasia of the nipples occasional (7.5%) HP:0006709
37 external ear malformation occasional (7.5%) HP:0008572
38 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
39 proximal placement of thumb occasional (7.5%) HP:0009623
40 aplasia/hypoplasia of the thymus occasional (7.5%) HP:0010515
41 cognitive impairment occasional (7.5%) HP:0100543
42 displacement of the external urethral meatus occasional (7.5%) HP:0100627
43 breast aplasia occasional (7.5%) HP:0100783
44 intellectual disability 7% HP:0001249
45 autosomal dominant inheritance HP:0000006
46 bladder diverticulum HP:0000015
47 inguinal hernia HP:0000023
48 cryptorchidism HP:0000028
49 hypogonadotrophic hypogonadism HP:0000044
50 micropenis HP:0000054
51 ureterocele HP:0000070
52 hydroureter HP:0000072
53 vesicoureteral reflux HP:0000076
54 duplicated collecting system HP:0000081
55 renal agenesis HP:0000104
56 renal dysplasia HP:0000110
57 hydronephrosis HP:0000126
58 rectovaginal fistula HP:0000143
59 transverse vaginal septum HP:0000145
60 cleft palate HP:0000175
61 absence of stensen duct HP:0000198
62 cleft upper lip HP:0000204
63 xerostomia HP:0000217
64 microcephaly HP:0000252
65 malar flattening HP:0000272
66 hypertelorism HP:0000316
67 hypoplasia of the maxilla HP:0000327
68 conductive hearing impairment HP:0000405
69 depressed nasal tip HP:0000437
70 choanal atresia HP:0000453
71 broad nasal tip HP:0000455
72 blepharitis HP:0000498
73 telecanthus HP:0000506
74 sparse eyebrow HP:0000535
75 blepharophimosis HP:0000581
76 photophobia HP:0000613
77 dacrocystitis HP:0000620
78 blue irides HP:0000635
79 sparse eyelashes HP:0000653
80 carious teeth HP:0000670
81 oligodontia HP:0000677
82 microdontia HP:0000691
83 growth hormone deficiency HP:0000824
84 central diabetes insipidus HP:0000863
85 hyperkeratosis HP:0000962
86 thin skin HP:0000963
87 hand polydactyly HP:0001161
88 split hand HP:0001171
89 intellectual disability HP:0001249
90 heterogeneous HP:0001425
91 selective tooth agenesis HP:0001592
92 abnormality of the nasopharynx HP:0001739
93 toe syndactyly HP:0001770
94 nail pits HP:0001803
95 split foot HP:0001839
96 anal atresia HP:0002023
97 recurrent respiratory infections HP:0002205
98 sparse scalp hair HP:0002209
99 sparse axillary hair HP:0002215
100 sparse pubic hair HP:0002225
101 fair hair HP:0002286
102 semilobar holoprosencephaly HP:0002507
103 hypoplastic nipples HP:0002557
104 generalized hypopigmentation HP:0007513
105 sparse hair HP:0008070
106 microtia HP:0008551
107 autosomal dominant inheritance HP:0000006
108 bladder diverticulum HP:0000015
109 cryptorchidism HP:0000028
110 hypogonadotrophic hypogonadism HP:0000044
111 micropenis HP:0000054
112 ureterocele HP:0000070
113 hydroureter HP:0000072
114 vesicoureteral reflux HP:0000076
115 duplicated collecting system HP:0000081
116 renal agenesis HP:0000104
117 renal dysplasia HP:0000110
118 hydronephrosis HP:0000126
119 transverse vaginal septum HP:0000145
120 cleft palate HP:0000175
121 absence of stensen duct HP:0000198
122 cleft upper lip HP:0000204
123 xerostomia HP:0000217
124 malar flattening HP:0000272
125 hypoplasia of the maxilla HP:0000327
126 hearing impairment HP:0000365
127 depressed nasal tip HP:0000437
128 choanal atresia HP:0000453
129 blepharitis HP:0000498
130 sparse eyebrow HP:0000535
131 blepharophimosis HP:0000581
132 photophobia HP:0000613
133 dacrocystitis HP:0000620
134 blue irides HP:0000635
135 sparse eyelashes HP:0000653
136 carious teeth HP:0000670
137 microdontia HP:0000691
138 growth hormone deficiency HP:0000824
139 central diabetes insipidus HP:0000863
140 hyperkeratosis HP:0000962
141 ectodermal dysplasia HP:0000968
142 split hand HP:0001171
143 selective tooth agenesis HP:0001592
144 abnormality of the nasopharynx HP:0001739
145 toe syndactyly HP:0001770
146 nail pits HP:0001803
147 split foot HP:0001839
148 sparse scalp hair HP:0002209
149 sparse axillary hair HP:0002215
150 sparse pubic hair HP:0002225
151 fair hair HP:0002286
152 hypoplastic nipples HP:0002557
153 generalized hypopigmentation HP:0007513
154 nail dystrophy HP:0008404
155 microtia HP:0008551

Drugs & Therapeutics for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Drug clinical trials:

Search ClinicalTrials for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Search NIH Clinical Center for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Genetic Tests for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Anatomical Context for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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MalaCards organs/tissues related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

32
Skin, Eye, Bone, Kidney, Breast

Animal Models for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate... or affiliated genes

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Publications for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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UniProtKB/Swiss-Prot genetic disease variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

63 (show all 18)
id Symbol AA change Variation ID SNP ID
1TP63p.Arg243GlnVAR_020870
2TP63p.Arg243TrpVAR_020871
3TP63p.Arg318HisVAR_020873
4TP63p.Arg319CysVAR_020874
5TP63p.Arg343GlnVAR_020876
6TP63p.Cys345ArgVAR_020877
7TP63p.Asp351GlyVAR_020878
8TP63p.Arg266GlnVAR_032738
9TP63p.Cys308TyrVAR_032739
10TP63p.Ser311AsnVAR_032740
11TP63p.Arg318CysVAR_032741
12TP63p.Arg318GlnVAR_032742
13TP63p.Arg319HisVAR_032743
14TP63p.Arg319SerVAR_032744
15TP63p.Arg343TrpVAR_032745
16TP63p.Cys347SerVAR_032746
17TP63p.Pro348SerVAR_032747
18TP63p.Asp351HisVAR_032748

Clinvar genetic disease variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

7
id Gene Name Type Significance SNP ID Assembly Location
1TP63TP63, ARG227PROsingle nucleotide variantPathogenic
2TP63NM_003722.4(TP63): c.727C> T (p.Arg243Trp)single nucleotide variantPathogenicrs121908835GRCh37Chr 3, 189582168: 189582168
3TP63NM_003722.4(TP63): c.728G> A (p.Arg243Gln)single nucleotide variantPathogenicrs121908836GRCh37Chr 3, 189582169: 189582169
4TP63NM_003722.4(TP63): c.1033T> C (p.Cys345Arg)single nucleotide variantPathogenicrs121908837GRCh37Chr 3, 189586409: 189586409
5TP63TP63, 1-BP INS, 1572AinsertionPathogenic
6TP63NM_003722.4(TP63): c.953G> A (p.Arg318His)single nucleotide variantPathogenicrs121908840GRCh37Chr 3, 189585692: 189585692
7TP63NM_003722.4(TP63): c.1028G> A (p.Arg343Gln)single nucleotide variantPathogenicrs121908841GRCh37Chr 3, 189586404: 189586404
8TP63NM_003722.4(TP63): c.1052A> G (p.Asp351Gly)single nucleotide variantPathogenicrs121908844GRCh37Chr 3, 189586428: 189586428
9TP63NM_003722.4(TP63): c.797G> A (p.Arg266Gln)single nucleotide variantPathogenicrs121908849GRCh37Chr 3, 189584501: 189584501

Expression for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Expression patterns in normal tissues for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Search GEO for disease gene expression data for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3.

Pathways for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Compounds for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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GO Terms for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Products for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet