Gene Summary

Name:
aldehyde dehydrogenase 18 family, member A1
Synonyms:
2810433K04Rik,  Pycs

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 259 images

Human diseases caused by Aldh18a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Aldh18a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cutis Laxa, Autosomal Dominant 3
Hernia OMIM:616603
Autosomal Dominant Cutis Laxa
Bronchiectasis, Pyelonephritis, Hernia, Inguinal hernia ORPHA:90348
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Umbilical hernia, Inguinal hernia OMIM:219150
Spastic Paraplegia 9A, Autosomal Dominant
Hiatus hernia OMIM:601162
Autosomal Dominant Spastic Paraplegia Type 9B
Elbow flexion contracture ORPHA:447757
Autosomal Recessive Spastic Paraplegia Type 9B
ORPHA:447760
Spastic Paraplegia 9B, Autosomal Recessive
OMIM:616586
Aldh18A1-Related De Barsy Syndrome
ORPHA:35664
Autosomal Dominant Spastic Paraplegia Type 9A
ORPHA:447753

The table below shows human diseases predicted to be associated to Aldh18a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Acne Inversa, Familial, 1
Atypical scarring of skin, Acne inversa OMIM:142690
Dissecting Cellulitis Of The Scalp
Pruritus, Cellulitis, Recurrent skin infections, Abnormal hair morphology ORPHA:345
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
Kerion Celsi
Inflammatory abnormality of the skin, Alopecia, Recurrent skin infections, Recurrent cutaneous ab... ORPHA:499
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Absence of subcutaneous fat, Lipoatrophy, Reduced subcutane... ORPHA:90160
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Pustule, Scarring, Scarring alopecia of scalp, Recurrent skin infection... ORPHA:346
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... ORPHA:79147
Lymphatic Malformation 3
Cellulitis, Recurrent skin infections OMIM:613480
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Pustule, Scarring alopecia of scalp ORPHA:222
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Absence of subcutaneous fat, Lipoatrophy, Reduced subcutane... ORPHA:90159
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Absence of subcutaneous fat, Reduced subcutaneous... ORPHA:90158
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Lymphadenitis, Absence of ... ORPHA:90156
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Cut... OMIM:618204
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Alopecia, Recurrent otitis media, Chronic mu... OMIM:618282
Dracunculiasis
Recurrent cutaneous abscess formation, Pruritus, Arthritis, Skin rash, Flexion contracture, Cellu... ORPHA:231
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Recurrent skin infections, Flexion contracture ORPHA:79503
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Nail dystrophy, Pneumonia OMIM:618806
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Recurrent otitis media, Recurrent skin infections, Cellulitis, Cutaneous abscess OMIM:618944
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis OMIM:613148
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections OMIM:617744
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl... ORPHA:87503
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Pseudopelade Of Brocq
Abnormal hair morphology, Cheilitis, Alopecia, Recurrent skin infections, Sparse scalp hair, Apla... ORPHA:129
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Conjunctivitis OMIM:603165
Porphyria Cutanea Tarda, Type I
Eczema, Hypertrichosis OMIM:176090
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash ORPHA:90280
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia OMIM:617638
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis, Nail dystrophy OMIM:616106
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Otitis media, Pneumonia OMIM:608971
Keratolytic Winter Erythema
Pustule ORPHA:50943
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Knee flexion contracture, Cellulitis, Colitis, E... OMIM:604416
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus ORPHA:330064
Cortisone Reductase Deficiency 1
Acne, Hirsutism OMIM:604931
Zinc Deficiency, Transient Neonatal
Eczema, Alopecia OMIM:608118
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Immunodeficiency 50
Eczema OMIM:300988
Elastoderma
Eczema, Erysipelas ORPHA:228240
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Recurrent skin infections, Co... OMIM:300635
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Eczema OMIM:233810
Bazex Syndrome
Atopic dermatitis, Eczema, Coarse hair, Acne inversa, Trichorrhexis nodosa, Pili torti, Sparse hair OMIM:301845
Immunodeficiency 17
Eczema, Recurrent otitis media OMIM:615607
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus OMIM:254400
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Alopecia OMIM:617443
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Eczema ORPHA:3055
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Recurrent sinusitis OMIM:616576
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Coffin-Siris Syndrome 8
Thick eyebrow, Sparse scalp hair, Eczema, Long eyelashes OMIM:618362
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Skin rash OMIM:124950
Pityriasis Rubra Pilaris
Pruritus, Eczema, Erythroderma, Pustule ORPHA:2897
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema OMIM:613960
Ichthyosis With Confetti
Erythroderma, Hypertrichosis OMIM:609165
Hypotrichosis Simplex Of The Scalp
Fine hair, Atopic dermatitis, Allergic rhinitis, Alopecia of scalp, Pruritus, Slow-growing scalp ... ORPHA:90368
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, ... OMIM:612843
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Long eyelashes, Pustule OMIM:616069
Absence Of Fingerprints-Congenital Milia Syndrome
Skin rash, Camptodactyly of finger ORPHA:1658
Pellagra-Like Syndrome
Skin rash OMIM:260650
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease ORPHA:69126
Pili Torti-Onychodysplasia Syndrome
Keloids, Eczema, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Nail dystrophy, Alopec... ORPHA:2890
Immunodeficiency 55
Eczema, Recurrent skin infections OMIM:617827
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Palma... ORPHA:64745
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Otitis media, Inflammator... ORPHA:229717
Majeed Syndrome
Inflammatory abnormality of the skin, Skin rash, Flexion contracture, Osteomyelitis OMIM:609628
Wiskott-Aldrich Syndrome 2
Eczema OMIM:614493
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Hirsutism OMIM:612847
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Eczema OMIM:243700
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis ORPHA:567544
Familial Male-Limited Precocious Puberty
Acne, Abnormal hair morphology ORPHA:3000
Classic Mycosis Fungoides
Pruritus, Eczema, Alopecia, Skin rash ORPHA:2584
Juvenile Arthritis
Skin rash OMIM:618795
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Osteomyelitis, Recurrent s... ORPHA:33110
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Acquired Ichthyosis
Pruritus, Recurrent skin infections ORPHA:454
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent otitis media, Recurrent pneumonia, Inflammatory abnormality of the skin ORPHA:277
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash ORPHA:889
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Eczema, Sparse hair, Sparse body hair ORPHA:1810
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Recurrent skin infections, Pustule ORPHA:302
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis ORPHA:79148
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Joint contracture of the hand, Keratitis OMIM:618523
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Folliculitis, Dystrophic fingernails, Scarring alopecia of scalp, Keratitis, Sp... OMIM:308800
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla... ORPHA:324964
Ulerythema Ophryogenesis
Contact dermatitis, Sparse lateral eyebrow, Acne ORPHA:3406
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash OMIM:611762
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent pneumonia, Skin rash, Chronic mucocutaneous candidiasis OMIM:147060
Protoporphyria, Erythropoietic, 1
Pruritus, Eczema OMIM:177000
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash OMIM:617321
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Erysipelas OMIM:615704
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... ORPHA:793
Papillon-Lefèvre Syndrome
Hypertrichosis, Pustule, Chronic furunculosis, Recurrent cutaneous abscess formation, Cigarette-p... ORPHA:678
Central Precocious Puberty
Abnormality of secondary sexual hair, Acne ORPHA:759
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal abscess, Skin rash OMIM:618108
Pachyonychia Congenita 2
Folliculitis, Dry hair, Nail dystrophy, Sparse and thin eyebrow, Sparse scalp hair OMIM:167210
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... ORPHA:31205
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema ORPHA:703
X-Linked Agammaglobulinemia
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Alopecia, Hepatitis, Arth... ORPHA:47
Psoriasis 14, Pustular
Cholangitis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Nail dystrophy OMIM:614204
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Atrophic scars, Rheumatoid arthritis ORPHA:48104
Immunodeficiency 58
Eczema, Allergic rhinitis, Recurrent cutaneous abscess formation, Chronic otitis media, Seborrhei... OMIM:618131
Immunodeficiency 31C
Eczema, Chronic mucocutaneous candidiasis OMIM:614162
Cutaneous Collagenous Vasculopathy
Pruritus, Skin rash ORPHA:280779
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Atrophic scars ORPHA:542592
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Lipodystrophy, ... ORPHA:39812
Netherton Syndrome
Fine hair, Eczema, Sparse eyelashes, Abnormal hair morphology, Erythroderma, Sparse scalp hair, T... ORPHA:634
Autosomal Erythropoietic Protoporphyria
Pruritus, Eczema ORPHA:79278
Familial Cold Autoinflammatory Syndrome 1
Conjunctivitis, Uveitis, Arthritis, Skin rash OMIM:120100
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Skin rash, Anterior uveitis OMIM:616744
Indolent Systemic Mastocytosis
Pruritus, Skin rash, Maculopapular exanthema ORPHA:98848
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Tularemia
Pneumonia, Otitis media, Inflammatory abnormality of the eye, Skin rash, Erythema nodosum, Cutane... ORPHA:3392
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Recurrent pneumonia, Skin rash, Pneumonia OMIM:300400
Vexas Syndrome
Inflammatory abnormality of the skin, Nasal chondritis, Chondritis of pinna, Neutrophilic infiltr... OMIM:301054
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Pustule, Synovitis, Acne, O... ORPHA:77297
Aicardi-Goutieres Syndrome 5
Chilblains, Flexion contracture OMIM:612952
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Sparse hair, Erythroderma, Recurrent skin infections OMIM:615508
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Thyroiditis OMIM:618985
Periodic Fever, Familial, Autosomal Dominant
Myositis, Oligoarthritis, Maculopapular exanthema, Skin rash, Erysipelas, Conjunctivitis OMIM:142680
Erythema Elevatum Diutinum
Skin rash ORPHA:90000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Otitis media, Juvenile rheumatoid arthritis, Skin rash, Hashimoto thyro... ORPHA:275
Cranio-Osteoarthropathy
Eczema, Osteoarthritis, Arthritis ORPHA:1525
Schnitzler Syndrome
Arthritis, Pruritus, Skin rash ORPHA:37748
Amyloidosis, Familial Visceral
Skin rash OMIM:105200
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pruritus, Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular ... ORPHA:284426
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Familial Benign Copper Deficiency
Early balding, Acne ORPHA:1551
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Erythroderma, Pustule OMIM:614328
Acral Peeling Skin Syndrome
Eczema ORPHA:263534
Immunodeficiency 49
Inflammatory abnormality of the skin, Hirsutism, Umbilical hernia OMIM:617237
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Crusting erythematous dermatitis ORPHA:79481
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... ORPHA:37042
Lipoid Proteinosis
Acne, Alopecia of scalp, Scarring, Pustule ORPHA:530
Iga Pemphigus
Pustule, Pruritus, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Subcorneal Pustular Dermatosis
Pruritus, Rheumatoid arthritis, Pustule ORPHA:48377
Holocarboxylase Synthetase Deficiency
Eczema, Alopecia, Keratoconjunctivitis, Perioral eczema ORPHA:79242
Cyclic Neutropenia
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash OMIM:618048
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Pericarditis, Skin rash, Anterior uveitis ORPHA:85414
Pigmented Nodular Adrenocortical Disease, Primary, 4
Acne, Dorsocervical fat pad, Alopecia, Hirsutism OMIM:615830
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Peritonitis OMIM:134610
Muckle-Wells Syndrome
Hernia of the abdominal wall, Episcleritis, Arthritis, Uveitis, Skin rash, Camptodactyly of finge... ORPHA:575
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Oligoarthritis, Pruritus, Sacroiliac arthritis, Anterior uveitis, Iridoc... ORPHA:85436
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Abnormal hair morphology, Dystrophic fingernails, Chronic otitis media, Pruritus, Osteomy... ORPHA:2314
Behcet Syndrome
Epididymitis, Arthritis, Iridocyclitis, Patchy alopecia, Iritis, Erythema nodosum OMIM:109650
Müllerian Aplasia And Hyperandrogenism
Hirsutism, Frontal balding, Acne, Thick eyebrow, High anterior hairline, Facial hirsutism, Synophrys ORPHA:247768
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Blau Syndrome
Eczema, Pericarditis, Flexion contracture of toe, Synovitis, Arthritis, Nongranulomatous uveitis,... OMIM:186580
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Lipodystrophy, Panniculitis, Arthritis, Skin rash, Flexion contracture, Conj... OMIM:617591
Rare Cutaneous Lupus Erythematosus
Deep dermal perivascular inflammatory infiltrate, Alopecia of scalp, Superficial dermal perivascu... ORPHA:535
Sting-Associated Vasculopathy, Infantile-Onset
Pustule, Myositis, Nail dystrophy, Malar rash, Skin rash, Pustular rash, Sparse hair OMIM:615934
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema OMIM:616871
Sulfite Oxidase Deficiency, Isolated
Fine hair, Eczema OMIM:272300
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Eczema, Recurrent pneumonia, Septic arthritis OMIM:617780
Estrogen Resistance
Acne OMIM:615363
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease OMIM:616100
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent skin infections, Glomerul... OMIM:610984
Van Den Bosch Syndrome
Recurrent skin infections ORPHA:3417
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Patchy alopecia, Chronic oral candidiasis, Thyroid... OMIM:606367
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Kid Syndrome
Keratoconjunctivitis sicca, Psoriasiform dermatitis, Sparse eyelashes, Folliculitis, Recurrent cu... ORPHA:477
Dermatitis Herpetiformis
Pruritus, Eczema ORPHA:1656
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Pustule, Chapped lip, Horizontal eyebrow, Slow-growing scalp hair, Recur... ORPHA:294023
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Stomatitis, Lymphadenitis, Chronic oral candidiasis, Chronic mucocutaneous candidiasis... ORPHA:911
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Erythroderma, Hepatitis, Alopecia, Arthritis, Glomerulonephritis OMIM:304790
Hyperzincemia With Functional Zinc Depletion
Skin rash OMIM:601979
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Allergic rhinitis, Pneumonia, Bronchiect... ORPHA:183675
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Chronic gastritis, Arthritis, Colitis OMIM:608809
Adult-Onset Still Disease
Myocarditis, Pericarditis, Pruritus, Hepatitis, Arthritis, Skin rash ORPHA:829
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Crusting erythematous dermatitis, Dystrophic fingernails, Dystrophic toenail ORPHA:158673
Mullerian Aplasia And Hyperandrogenism
Acne, Hirsutism OMIM:158330
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Glomerulonephr... ORPHA:36234
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi... ORPHA:3243
Gjc2-Related Late-Onset Primary Lymphedema
Cellulitis, Recurrent skin infections ORPHA:568051
Zika Virus Disease
Infectious encephalitis, Pruritus, Arthritis, Maculopapular exanthema, Skin rash, Myelitis, Conju... ORPHA:448237
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Recurrent skin infections, Cel... ORPHA:486
Immunodeficiency 81
Skin rash, Recurrent cutaneous abscess formation OMIM:619374
Prolidase Deficiency
Eczema, Low posterior hairline, Recurrent pneumonia, Crusting erythematous dermatitis, Facial hir... OMIM:170100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Recurrent cutaneous funga... ORPHA:276
Uremic Pruritus
Inflammatory abnormality of the skin, Pruritus, Recurrent skin infections ORPHA:94059
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Crohn's disease, Perianal abscess, Recurrent pneumonia, Acute pancreatitis... OMIM:618935
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Keratoconjunctivitis sicca, Eczema, Breast aplasia, Generalized hypopigmentation of ha... ORPHA:238468
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis ORPHA:2483
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Hirsutism ORPHA:2795
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Pneumonia, Bronchiectasis, Recurrent otitis media, Arthritis... OMIM:614700
Microscopic Polyangiitis
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Arthritis, Pancreatitis, Increased inflammato... ORPHA:727
Adiposis Dolorosa
Sparse axillary hair, Recurrent skin infections, Arthritis, Sparse pubic hair ORPHA:36397
Juvenile Idiopathic Arthritis
Arthritis, Psoriasiform dermatitis, Uveitis, Skin rash ORPHA:92
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma OMIM:619510
Reynolds Syndrome
Keratoconjunctivitis sicca, Infectious encephalitis, Pruritus, Arthritis, Skin rash ORPHA:779
Fixed Drug Eruption
Crusting erythematous dermatitis, Stomatitis ORPHA:293812
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
Biotinidase Deficiency
Seborrheic dermatitis, Alopecia, Recurrent skin infections, Skin rash, Conjunctivitis OMIM:253260
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Panniculitis, Skin rash OMIM:617099
Meige Disease
Cellulitis, Atypical scarring of skin, Recurrent bacterial skin infections, Recurrent skin infect... ORPHA:90186
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Peritonitis, Myositis, Fasciitis, Arthritis, Uveitis, Skin rash, Orchitis, Cellulit... ORPHA:32960
Antisynthetase Syndrome
Myocarditis, Keratoconjunctivitis sicca, Myositis, Pruritus, Skin rash ORPHA:81
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Acne inversa, Recurrent skin infections, Arteritis, High anterior ha... OMIM:233600
Milroy Disease
Cellulitis, Erysipelas ORPHA:79452
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Pustule, Osteomyelitis ORPHA:171876
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Alopecia, Arthritis, Gastritis, ... ORPHA:809
Adult Syndrome
Eczema, Hypoplastic nipples, Alopecia of scalp, Sparse axillary hair, Sparse scalp hair, Absent n... OMIM:103285
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Eczema, Bronchiectasis, Abnormality of connective tissue, Rheumatoid ... ORPHA:79128
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Dystrophic fingernails, Pustule, Arthritis, Os... ORPHA:29207
Pgm3-Cdg
Atopic dermatitis, Eczema, Allergic rhinitis, Bronchiectasis, Chronic otitis media, Chronic sinus... ORPHA:443811
Complete Androgen Insensitivity Syndrome
Sparse axillary hair, Acne, Sparse pubic hair, Absent pubic hair, Absent axillary hair ORPHA:99429
Chronic Mucocutaneous Candidiasis
Cheilitis, Pruritus, Hepatitis, Abnormal dental enamel morphology, Skin rash ORPHA:1334
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Pruritus, Skin rash, Orchitis ORPHA:556
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Pustule, Skin rash, Stomatitis OMIM:612852
Pachydermoperiostosis
Eczematoid dermatitis, Seborrheic dermatitis, Acne, Arthritis, Abnormal hair pattern, Osteomyelit... ORPHA:2796
Ectodermal Dysplasia-Skin Fragility Syndrome
Scarring, Cheilitis, Pruritus, Nail dystrophy, Chapped lip, Recurrent skin infections, Recurrent ... ORPHA:158668
B4Galt1-Cdg
Inflammatory abnormality of the skin ORPHA:79332
Chronic Granulomatous Disease
Sinusitis, Eczema, Otitis media, Inflammatory abnormality of the eye ORPHA:379
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash OMIM:253270
Coccidioidomycosis
Pericarditis, Folliculitis, Pneumonia, Peritonitis, Pruritus, Panniculitis, Arthritis, Pancreatit... ORPHA:228123
Chikungunya
Infectious encephalitis, Synovitis, Pruritus, Arthritis, Maculopapular exanthema, Skin rash, Crus... ORPHA:324625
Hyper-Igd Syndrome
Lymphadenitis, Chronic oral candidiasis, Arthritis, Serositis, Skin rash, Molluscum contagiosum OMIM:260920
Zygomycosis
Sinusitis, Myocarditis, Pericarditis, Infectious encephalitis, Pustule, Endocarditis, Unusual ski... ORPHA:73263
Listeriosis
Myocarditis, Infectious encephalitis, Pericarditis, Pustule, Pneumonia, Endocarditis, Unusual ski... ORPHA:533
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Aplasia/Hypoplastia of the eccrine sweat glands, Eczema, Sparse eyelashes, Hypoplastic nipples, R... OMIM:305100
Sener Syndrome
Eczema, Coarse hair, Umbilical hernia, Inguinal hernia OMIM:606156
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Pustule, Chronic oral candidiasis, Recurrent pneumonia, Skin rash, Acute otitis media ORPHA:35078
Refractory Celiac Disease
Inflammatory abnormality of the skin ORPHA:398063
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Flexion contracture of toe, Episcleritis, Elbow flexion contracture, Panniculitis... OMIM:256040
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Pericarditis, Tubulointerstitial nephritis, Urinary bladder... ORPHA:449395
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Bronchiectasis, Hepatitis,... ORPHA:391487
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Skin rash, Orchitis, Osteoarthritis, Erysipelas ORPHA:342
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Pruritus, Arthritis, Pan... ORPHA:3260
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Arthritis, Increased inf... ORPHA:48435
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Cheilitis, Esophagitis, Abnormal dental enamel morphology, P... ORPHA:2908
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Pneumonia ORPHA:26793
Leukocyte Adhesion Deficiency
Sinusitis, Lymphocytic interstitial pneumonia, Pneumonia, Bronchiectasis, Peritonitis, Glomerulon... ORPHA:2968
Immunoglobulin A Vasculitis
Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash, Orchitis ORPHA:761
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nail dystrophy, Urinary bladder inflammation, Enamel hypoplasia, Recurrent skin infections ORPHA:79403
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Crohn's disease, Orchitis, Erysipelas OMIM:249100
Kawasaki Disease
Myocarditis, Pericarditis, Abnormality of nail color, Cheilitis, Hepatitis, Arthritis, Skin rash,... ORPHA:2331
Blau Syndrome
Abnormal inflammatory response, Pericarditis, Synovitis, Posterior uveitis, Retrobulbar optic neu... ORPHA:90340
Thrombocytopenia 1
Eczema OMIM:313900
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Bronchiectasis, Hepatitis, Recurrent otitis media, Arthritis, Osteomyelitis, Gastritis... OMIM:619381
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Trichiasis, Pneumonia, Rhinitis... ORPHA:95455
Generalized Glucocorticoid Resistance Syndrome
Acne, Hirsutism, Frontal balding ORPHA:786
Plague
Inflammation of the large intestine, Endocarditis, Lymphadenitis, Chapped lip, Arthritis, Inflamm... ORPHA:707
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Pancreatitis ORPHA:565612
Cutis Laxa, Autosomal Dominant 3
Hernia OMIM:616603
Autosomal Dominant Cutis Laxa
Bronchiectasis, Pyelonephritis, Hernia, Inguinal hernia ORPHA:90348
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Umbilical hernia, Inguinal hernia OMIM:219150
Spastic Paraplegia 9A, Autosomal Dominant
Hiatus hernia OMIM:601162
Autosomal Dominant Spastic Paraplegia Type 9B
Elbow flexion contracture ORPHA:447757
Spastic Paraplegia 9B, Autosomal Recessive
OMIM:616586
Aldh18A1-Related De Barsy Syndrome
ORPHA:35664
Autosomal Recessive Spastic Paraplegia Type 9B
ORPHA:447760
Autosomal Dominant Spastic Paraplegia Type 9A
ORPHA:447753

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Aldh18a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aldh18a1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Aldh18a1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Aldh18a1tm1a(KOMP)Wtsi