ACFD
MCID: ACR002
MIFTS: 51

Acrocapitofemoral Dysplasia (ACFD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Acrocapitofemoral Dysplasia

MalaCards integrated aliases for Acrocapitofemoral Dysplasia:

Name: Acrocapitofemoral Dysplasia 57 11 19 58 73 28 12 5 43 14 71
Acfd 57 19 73
Dysplasia, Acrocapitofemoral 38

Characteristics:


Inheritance:

Autosomal recessive 58 57

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to brachydactyly, type a1
cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Acrocapitofemoral Dysplasia

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles.

MalaCards based summary: Acrocapitofemoral Dysplasia, also known as acfd, is related to osteochondrodysplasia and brachydactyly. An important gene associated with Acrocapitofemoral Dysplasia is IHH (Indian Hedgehog Signaling Molecule), and among its related pathways/superpathways are Signal Transduction and ADORA2B mediated anti-inflammatory cytokines production. Affiliated tissues include bone and heart, and related phenotypes are skeletal dysplasia and delayed skeletal maturation

OMIM®: 57 Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021). (607778) (Updated 08-Dec-2022)

Disease Ontology: 11 An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has material basis in mutations in the Indian hedgehog homolog gene.

GARD: 19 A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.

Orphanet: 58 A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.

Related Diseases for Acrocapitofemoral Dysplasia

Diseases related to Acrocapitofemoral Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 osteochondrodysplasia 29.6 SHH NPR2 NPPC IHH GDF5
2 brachydactyly 29.5 SHH PTCH1 NPR2 IHH GLI1 GDF5
3 cholera 10.2
4 polydactyly, preaxial ii 10.2 SHH PTCH1
5 vulva basal cell carcinoma 10.2 SHH PTCH1
6 holoprosencephaly 6 10.2 SHH PTCH1
7 pancreas, annular 10.2 SHH IHH
8 holoprosencephaly 7 10.2 PTCH1 DHH
9 large cell medulloblastoma 10.2 SHH PTCH1
10 holoprosencephaly 11 10.2 SHH PTCH1
11 midline interhemispheric variant of holoprosencephaly 10.2 SHH PTCH1
12 septopreoptic holoprosencephaly 10.2 SHH PTCH1
13 adult medulloblastoma 10.2 SHH PTCH1
14 alobar holoprosencephaly 10.2 SHH PTCH1
15 lobar holoprosencephaly 10.2 SHH PTCH1
16 micronodular basal cell carcinoma 10.2 SHH PTCH1
17 overgrowth syndrome 10.1 PTCH1 NPR2
18 chronic tympanitis 10.1 IHH GDF5
19 sugarman brachydactyly 10.1 IHH GDF5
20 microform holoprosencephaly 10.1 SHH PTCH1
21 brachydactyly, type a1, d 10.1 IHH GDF5
22 joubert syndrome 8 10.1 SHH PTCH1
23 brachydactyly, type a4 10.1 IHH GDF5
24 fibroepithelial basal cell carcinoma 10.1 PTCH1 GLI1
25 brachydactyly, type a1, c 10.1 IHH GDF5
26 pericytoma with t(7;12) 10.1 PTCH1 GLI1
27 penis carcinoma in situ 10.1 PTCH1 GLI1
28 basosquamous carcinoma 10.1 PTCH1 GLI1
29 trachea leiomyoma 10.1 SHH GLI1
30 holoprosencephaly 9 10.1 SHH GLI3
31 semilobar holoprosencephaly 10.1 SHH PTCH1
32 brachydactyly, type b1 10.1 IHH GDF5
33 solitary median maxillary central incisor 10.1 SHH PTCH1
34 acromesomelic dysplasia 2c 10.0 NPR2 GDF5
35 tibia, hypoplasia or aplasia of, with polydactyly 10.0 SHH GLI3
36 syndactyly, type iv 10.0 SHH GLI3
37 acromesomelic dysplasia 2a 10.0 NPR2 GDF5
38 skin tag 10.0 PTCH1 GLI3
39 desmoplastic nodular medulloblastoma 10.0 SHH PTCH1 GLI1
40 culler-jones syndrome 10.0 SHH IHH GLI3
41 cerebellar medulloblastoma 10.0 SHH PTCH1 GLI1
42 cerebellum cancer 10.0 SHH PTCH1 GLI1
43 laurin-sandrow syndrome 10.0 SHH IHH GLI3
44 childhood medulloblastoma 10.0 SHH PTCH1 GLI1
45 skeletal muscle cancer 10.0 SHH PTCH1 GLI1
46 reading disorder 10.0
47 atypical teratoid rhabdoid tumor 10.0 SHH PTCH1 GLI1
48 cartilage disease 10.0 IHH GDF5
49 acromesomelic dysplasia 2b 10.0 NPR2 GDF5
50 holoprosencephaly 3 10.0 SHH PTCH1 GLI3

Graphical network of the top 20 diseases related to Acrocapitofemoral Dysplasia:



Diseases related to Acrocapitofemoral Dysplasia

Symptoms & Phenotypes for Acrocapitofemoral Dysplasia

Human phenotypes related to Acrocapitofemoral Dysplasia:

58 30 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002652
2 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002750
3 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
4 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
5 coxa vara 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002812
6 short palm 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004279
7 hyperlordosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0003307
8 ovoid vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0003300
9 genu varum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002970
10 broad nail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001821
11 small nail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001792
12 cone-shaped metacarpal epiphyses 58 30 Frequent (33%) Frequent (79-30%)
HP:0006059
13 flared iliac wing 30 Frequent (33%) HP:0002869
14 macrocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000256
15 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
16 pectus carinatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000768
17 short thorax 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010306
18 pectus excavatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000767
19 narrow chest 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000774
20 enlargement of the distal femoral epiphysis 30 HP:0006438
21 brachydactyly 30 HP:0001156
22 short distal phalanx of finger 30 HP:0009882
23 short metacarpal 30 HP:0010049
24 hypoplasia of the ulna 30 HP:0003022
25 cone-shaped epiphysis 58 Very frequent (99-80%)
26 lumbar hyperlordosis 30 HP:0002938
27 disproportionate short-limb short stature 30 HP:0008873
28 hypoplasia of the radius 30 HP:0002984
29 relative macrocephaly 30 HP:0004482
30 disproportionate short stature 30 HP:0003498
31 short tibia 30 HP:0005736
32 short humerus 30 HP:0005792
33 flared iliac wings 58 Frequent (79-30%)
34 short ribs 30 HP:0000773
35 short femur 30 HP:0003097
36 hypoplastic iliac wing 30 HP:0002866
37 abnormality of the femoral neck 58 Very frequent (99-80%)
38 short femoral neck 30 HP:0100864
39 delayed ossification of carpal bones 30 HP:0001216
40 short proximal phalanx of finger 30 HP:0010241
41 dysplasia of the femoral head 30 HP:0010575
42 fibular overgrowth 30 HP:0003099
43 cupped ribs 30 HP:0000887
44 short proximal phalanx of thumb 30 HP:0009638
45 small finger 30 HP:0030033
46 cone-shaped capital femoral epiphysis 30 HP:0008789
47 cone-shaped epiphysis of the 1st metacarpal 30 HP:0010017

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum
rib cupping

Skeletal Hands:
brachydactyly
short hands
delayed carpal bone age
cone-shaped epiphyses (metacarpals, thumbs, middle and distal phalanges)
short middle and distal phalanges

Skeletal Pelvis:
coxa vara
short femoral neck
cone-shaped epiphyses (proximal femur)
egg-shaped femoral head
short, flared iliac wings

Neurologic Central Nervous System:
normal intelligence

Skin Nails Hair Nails:
broad fingernails
small finger nails

Skeletal Feet:
cone-shaped epiphyses (ankles)

Skeletal Spine:
ovoid vertebral bodies
lumbar hyperlordosis
anterior notching of vertebral bodies

Skeletal Limbs:
genu varum
short limbs
cone-shaped epiphyses (proximal and distal tibia)
varus deformity (humeral head)
large distal femoral epiphyses

Growth Height:
normal birth length
short-limbed dwarfism
short stature, disproportionate

Chest External Features:
narrow thorax

Head And Neck Head:
relatively large head

Clinical features from OMIM®:

607778 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Acrocapitofemoral Dysplasia:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 BOC GDF5 GLI1 GLI3 HHIP IHH
2 nervous system MP:0003631 10.21 BOC DHH GLI1 GLI3 HHIP IHH
3 limbs/digits/tail MP:0005371 10.15 BOC GDF5 GLI1 GLI3 IHH NPPC
4 endocrine/exocrine gland MP:0005379 10.11 DHH GLI1 GLI3 HHIP IHH NPPC
5 digestive/alimentary MP:0005381 10.06 BOC DHH GLI1 GLI3 HHIP IHH
6 craniofacial MP:0005382 10.02 BOC GLI1 GLI3 HHIP IHH NPPC
7 no phenotypic analysis MP:0003012 10 GLI1 GLI3 IHH NPR2 PTCH1 SHH
8 embryo MP:0005380 9.98 GDF5 GLI1 GLI3 HHIP IHH PTCH1
9 respiratory system MP:0005388 9.92 BOC GLI1 GLI3 HHIP IHH NPR2
10 reproductive system MP:0005389 9.86 DHH GDF5 GLI1 GLI3 NPPC NPR2
11 skeleton MP:0005390 9.81 BOC GDF5 GLI1 GLI3 IHH NPPC
12 mortality/aging MP:0010768 9.36 BOC GDF5 GLI1 GLI3 HHIP IHH
13 taste/olfaction MP:0005394 9.13 GLI3 PTCH1 SHH

Drugs & Therapeutics for Acrocapitofemoral Dysplasia

Search Clinical Trials, NIH Clinical Center for Acrocapitofemoral Dysplasia

Cochrane evidence based reviews: acrocapitofemoral dysplasia

Genetic Tests for Acrocapitofemoral Dysplasia

Genetic tests related to Acrocapitofemoral Dysplasia:

# Genetic test Affiliating Genes
1 Acrocapitofemoral Dysplasia 28 IHH

Anatomical Context for Acrocapitofemoral Dysplasia

Organs/tissues related to Acrocapitofemoral Dysplasia:

MalaCards : Bone, Heart

Publications for Acrocapitofemoral Dysplasia

Articles related to Acrocapitofemoral Dysplasia:

(show all 38)
# Title Authors PMID Year
1
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. 62 57 5
12632327 2003
2
Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease. 62 57
34530144 2021
3
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips. 62 57
12624140 2003
4
SAG therapy restores bone growth and reduces enchondroma incidence in a model of skeletal chondrodysplasias caused by Ihh deficiency. 62
34820473 2021
5
Toward chemical accuracy at low computational cost: Density-functional theory with σ-functionals for the correlation energy. 62
33412877 2021
6
Lieb-Oxford bound and pair correlation functions for density-functional methods based on the adiabatic-connection fluctuation-dissipation theorem. 62
32935700 2020
7
The compatibility effects of sini decoction against doxorubicin-induced heart failure in rats revealed by mass spectrometry-based serum metabolite profiling and computational analysis. 62
32006632 2020
8
Enhanced "contact mechanism" for interaction of extracellular polymeric substances with low-grade copper-bearing sulfide ore in bioleaching by moderately thermophilic Acidithiobacillus caldus. 62
31026798 2019
9
Simultaneous Attenuation of Both Self-Interaction Error and Nondynamic Correlation Error in Density Functional Theory: A Spin-Pair Distinctive Adiabatic-Connection Approximation. 62
31046289 2019
10
Association of Canadian Faculties of Dentistry Educational Framework for the Development of Competency in Dental Programs. 62
30936212 2019
11
Comparing Practice Management Courses in Canadian Dental Schools. 62
29717074 2018
12
First-Principles Models for van der Waals Interactions in Molecules and Materials: Concepts, Theory, and Applications. 62
28272886 2017
13
Accurate Intermolecular Potential for the C60 Dimer: The Performance of Different Levels of Quantum Theory. 62
27959551 2017
14
Power Series Approximation for the Correlation Kernel Leading to Kohn-Sham Methods Combining Accuracy, Computational Efficiency, and General Applicability. 62
27740821 2016
15
Molecular and Genomic Characterization of Vibrio mimicus Isolated from a Frozen Shrimp Processing Facility in Mexico. 62
26730584 2016
16
Self-consistent Kohn-Sham method based on the adiabatic-connection fluctuation-dissipation theorem and the exact-exchange kernel. 62
26133411 2015
17
Stability conditions for exact-exchange Kohn-Sham methods and their relation to correlation energies from the adiabatic-connection fluctuation-dissipation theorem. 62
25429933 2014
18
Bicarbonate increases binding affinity of Vibrio cholerae ToxT to virulence gene promoters. 62
25182489 2014
19
Grimontia indica AK16(T), sp. nov., isolated from a seawater sample reports the presence of pathogenic genes similar to Vibrio genus. 62
24465608 2014
20
On the Short-Range Behavior of Correlated Pair Functions from the Adiabatic-Connection Fluctuation-Dissipation Theorem of Density-Functional Theory. 62
26589155 2013
21
Interatomic methods for the dispersion energy derived from the adiabatic connection fluctuation-dissipation theorem. 62
23444996 2013
22
Electron affinities and ionisation potentials for atoms via "benchmark" tdDFT calculations with and without exchange kernels. 62
23298030 2013
23
Communication: Beyond the random phase approximation on the cheap: improved correlation energies with the efficient "radial exchange hole" kernel. 62
22998242 2012
24
Poster - Thur Eve - 07: CNSC Update: "What's New in Class II". 62
28516523 2012
25
Assessing graduating dental students' competencies: the impact of classroom, clinic and externships learning experiences. 62
21762318 2011
26
Stand-alone cervical polyetheretherketone (PEEK) cage (cervios) for single to two-level degenerative disc disease. 62
21534365 2011
27
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. 62
19277064 2009
28
Importation of the major pilin TcpA gene and frequent recombination drive the divergence of the Vibrio pathogenicity island in Vibrio cholerae. 62
19054108 2008
29
Use of resorbable implants for symptomatic cervical spondylosis: experience on 16 consecutive patients. 62
18176526 2007
30
The toxbox: specific DNA sequence requirements for activation of Vibrio cholerae virulence genes by ToxT. 62
16553883 2006
31
Vibrio cholerae ToxT independently activates the divergently transcribed aldA and tagA genes. 62
16291662 2005
32
Activation of both acfA and acfD transcription by Vibrio cholerae ToxT requires binding to two centrally located DNA sites in an inverted repeat conformation. 62
15853890 2005
33
Serum total and lipid-bound sialic acid levels following acute myocardial infarction. 62
11205689 2000
34
Sequence analysis of the Vibrio cholerae acfD gene reveals the presence of an overlapping reading frame, orfZ, which encodes a protein that shares sequence similarity to the FliA and FliC products of Salmonella. 62
8063108 1994
35
Structural analysis of the acfA and acfD genes of Vibrio cholerae: effects of DNA topology and transcriptional activators on expression. 62
1644747 1992
36
ToxR regulates the production of lipoproteins and the expression of serum resistance in Vibrio cholerae. 62
2000374 1991
37
No ostriches in sight. Just an octopus. An ACFD/AFDC position paper pursuant to the manpower and prelicensure conferences. 62
3545398 1987
38
ACFD supports concept of consumer involvement in accreditation process. 62
1058199 1975

Variations for Acrocapitofemoral Dysplasia

ClinVar genetic disease variations for Acrocapitofemoral Dysplasia:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IHH NM_002181.4(IHH):c.137C>T (p.Pro46Leu) SNV Pathogenic
8870 rs121917856 GRCh37: 2:219925053-219925053
GRCh38: 2:219060331-219060331
2 IHH NM_002181.4(IHH):c.569T>C (p.Val190Ala) SNV Pathogenic
8871 rs121917857 GRCh37: 2:219922163-219922163
GRCh38: 2:219057441-219057441
3 IHH NM_002181.4(IHH):c.352G>A (p.Val118Met) SNV Likely Pathogenic
800918 rs1454141074 GRCh37: 2:219922380-219922380
GRCh38: 2:219057658-219057658
4 IHH NM_002181.4(IHH):c.478C>T (p.Arg160Cys) SNV Likely Pathogenic
1217222 GRCh37: 2:219922254-219922254
GRCh38: 2:219057532-219057532
5 IHH NM_002181.4(IHH):c.1021G>A (p.Glu341Lys) SNV Uncertain Significance
1683475 GRCh37: 2:219920144-219920144
GRCh38: 2:219055422-219055422
6 IHH NM_002181.4(IHH):c.851C>T (p.Thr284Met) SNV Uncertain Significance
1683476 GRCh37: 2:219920314-219920314
GRCh38: 2:219055592-219055592
7 IHH NM_002181.4(IHH):c.217C>T (p.Arg73Cys) SNV Uncertain Significance
1691308 GRCh37: 2:219924973-219924973
GRCh38: 2:219060251-219060251
8 IHH NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla) INDEL Uncertain Significance
800998 rs1574689480 GRCh37: 2:219925112-219925137
GRCh38: 2:219060390-219060415
9 IHH NM_002181.4(IHH):c.88C>A (p.Pro30Thr) SNV Uncertain Significance
1030530 rs1574689457 GRCh37: 2:219925102-219925102
GRCh38: 2:219060380-219060380
10 IHH NM_002181.4(IHH):c.753T>C (p.Pro251=) SNV Benign
334440 rs3731881 GRCh37: 2:219920412-219920412
GRCh38: 2:219055690-219055690
11 IHH NM_002181.4(IHH):c.600G>A (p.Thr200=) SNV Benign
334443 rs3731878 GRCh37: 2:219920565-219920565
GRCh38: 2:219055843-219055843
12 IHH NM_002181.4(IHH):c.1128T>C (p.Thr376=) SNV Benign
593247 rs394452 GRCh37: 2:219920037-219920037
GRCh38: 2:219055315-219055315

UniProtKB/Swiss-Prot genetic disease variations for Acrocapitofemoral Dysplasia:

73
# Symbol AA change Variation ID SNP ID
1 IHH p.Pro46Leu VAR_015981 rs121917856
2 IHH p.Val190Ala VAR_015986 rs121917857

Expression for Acrocapitofemoral Dysplasia

Search GEO for disease gene expression data for Acrocapitofemoral Dysplasia.

Pathways for Acrocapitofemoral Dysplasia

Pathways related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1 13.49 SHH PTCH1 IHH HHIP GLI3 GLI1
2
Show member pathways
13.01 PTCH1 NPR2 IHH GLI1 DHH
3
Show member pathways
12.43 GLI1 GLI3 NPR2 PTCH1
4
Show member pathways
12.22 SHH PTCH1 IHH DHH
5
Show member pathways
12.18 BOC DHH GLI1 GLI3 HHIP IHH
6 12.02 SHH PTCH1 GLI1
7 11.9 SHH GLI3 BOC
8
Show member pathways
11.83 PTCH1 IHH GLI3
10 11.29 GLI1 GLI3 SHH
11 11.21 SHH PTCH1 IHH GLI1
12
Show member pathways
11.14 PTCH1 GLI3 GLI1
13 11.14 SHH PTCH1 GLI3 GLI1
14 11.08 SHH GLI1
15
Show member pathways
11.06 SHH PTCH1 IHH HHIP GLI3 DHH
16 11.02 NPR2 IHH
17 10.98 SHH PTCH1 GLI1
18 10.85 SHH PTCH1 IHH HHIP GLI3 GLI1
19 10.59 SHH PTCH1 GLI1
20
Show member pathways
10.54 SHH GLI3
21 10.43 SHH PTCH1

GO Terms for Acrocapitofemoral Dysplasia

Cellular components related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GLI-SUFU complex GO:1990788 8.92 GLI3 GLI1

Biological processes related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 10.29 SHH IHH GDF5 DHH
2 regulation of gene expression GO:0010468 10.27 SHH IHH GLI3 DHH
3 spermatid development GO:0007286 10.2 PTCH1 GLI1 DHH
4 lung development GO:0030324 10.2 SHH GLI3 GLI1
5 response to estradiol GO:0032355 10.19 PTCH1 IHH DHH
6 osteoblast differentiation GO:0001649 10.19 DHH GLI1 GLI3 IHH
7 response to mechanical stimulus GO:0009612 10.16 PTCH1 IHH GDF5
8 embryonic digit morphogenesis GO:0042733 10.14 SHH IHH GLI3
9 stem cell proliferation GO:0072089 10.14 GLI3 PTCH1 SHH
10 branching involved in ureteric bud morphogenesis GO:0001658 10.13 SHH PTCH1 GLI3
11 ossification GO:0001503 10.12 IHH NPPC NPR2
12 neuroblast proliferation GO:0007405 10.1 SHH HHIP GLI3
13 cell fate specification GO:0001708 10.08 SHH IHH DHH
14 chondrocyte differentiation GO:0002062 10.07 GDF5 GLI3 IHH
15 liver regeneration GO:0097421 10.05 PTCH1 IHH GLI1
16 negative regulation of stem cell proliferation GO:2000647 10.04 PTCH1 GLI3
17 limb morphogenesis GO:0035108 10.04 PTCH1 GLI3
18 protein autoprocessing GO:0016540 10.04 SHH IHH DHH
19 positive regulation of chondrocyte differentiation GO:0032332 10.03 GLI3 GDF5
20 negative regulation of smoothened signaling pathway GO:0045879 10.03 GLI3 HHIP PTCH1
21 dorsal/ventral neural tube patterning GO:0021904 10.02 SHH PTCH1
22 cGMP biosynthetic process GO:0006182 10.01 NPPC NPR2
23 positive regulation of T cell differentiation in thymus GO:0033089 10.01 IHH SHH
24 negative thymic T cell selection GO:0045060 10.01 GLI3 SHH
25 negative regulation of chondrocyte differentiation GO:0032331 10.01 IHH GLI3 GDF5
26 receptor guanylyl cyclase signaling pathway GO:0007168 10 NPPC NPR2
27 artery development GO:0060840 10 GLI3 SHH
28 metanephric collecting duct development GO:0072205 10 PTCH1 SHH
29 mesenchymal cell apoptotic process GO:0097152 10 GDF5 SHH
30 alpha-beta T cell differentiation GO:0046632 9.99 SHH GLI3
31 hindlimb morphogenesis GO:0035137 9.99 PTCH1 GDF5
32 embryonic digestive tract morphogenesis GO:0048557 9.99 GLI3 IHH SHH
33 positive regulation of cGMP-mediated signaling GO:0010753 9.98 NPR2 NPPC
34 camera-type eye development GO:0043010 9.97 GLI3 IHH SHH
35 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.97 SHH GDF5
36 negative regulation of T cell differentiation in thymus GO:0033085 9.97 SHH IHH
37 somite development GO:0061053 9.97 SHH PTCH1 IHH
38 negative regulation of hh target transcription factor activity GO:1990787 9.96 GLI3 GLI1
39 hindgut morphogenesis GO:0007442 9.95 GLI3 SHH
40 smooth muscle tissue development GO:0048745 9.95 SHH PTCH1 IHH
41 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.94 GLI1 SHH
42 negative regulation of oocyte maturation GO:1900194 9.93 NPPC NPR2
43 embryonic organ development GO:0048568 9.93 SHH PTCH1 GLI3
44 prostate gland development GO:0030850 9.93 GLI1 PTCH1 SHH
45 cell differentiation involved in kidney development GO:0061005 9.92 PTCH1 GLI3
46 spinal cord motor neuron differentiation GO:0021522 9.92 SHH PTCH1 GLI3
47 epithelial tube branching involved in lung morphogenesis GO:0060441 9.91 SHH HHIP
48 negative regulation of meiotic cell cycle GO:0051447 9.91 NPR2 NPPC
49 ventral midline development GO:0007418 9.91 SHH GLI1
50 self proteolysis GO:0097264 9.91 SHH IHH DHH

Molecular functions related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hedgehog family protein binding GO:0097108 9.46 PTCH1 HHIP
2 cholesterol-protein transferase activity GO:0140853 9.43 SHH IHH DHH
3 patched binding GO:0005113 9.23 SHH PTCH1 IHH DHH

Sources for Acrocapitofemoral Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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