Autoimmunity, and Clinodactyly

Diseases related with Autoimmunity and Clinodactyly

In the following list you will find some of the most common rare diseases related to Autoimmunity and Clinodactyly that can help you solving undiagnosed cases.


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Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Low match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

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Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low match ADENOCARCINOMA OF THE ESOPHAGUS


Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.

ADENOCARCINOMA OF THE ESOPHAGUS Is also known as esophageal adenocarcinoma|barrett metaplasia

Related symptoms:

  • Dysphagia
  • Obesity
  • Gastroesophageal reflux
  • Feeding difficulties in infancy
  • Cough


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ADENOCARCINOMA OF THE ESOPHAGUS

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match EPIDERMOLYTIC PALMOPLANTAR KERATODERMA


Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). Genetic Heterogeneity of Palmoplantar KeratodermaNonepidermolytic palmoplantar keratoderma (NEPPK ) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1 ) is caused by mutation in the KRT16 gene (OMIM ). Another focal form, FNEPPK2 (OMIM ), is caused by mutation in the TRPV3 gene (OMIM ); mutation in TRPV3 can also cause Olmsted syndrome (OLMS ), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB ) is caused by mutation in the AQP5 gene (OMIM ). The Nagashima type of nonepidermolytic diffuse PPK (PPKN ) is caused by mutation in the SERPINB7 gene (OMIM ).A generalized form of epidermolytic hyperkeratosis (EHK ), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 (OMIM ).For a discussion of punctate PPK, see {148600}; for a discussion of striate PPK, see {148700}.

EPIDERMOLYTIC PALMOPLANTAR KERATODERMA Is also known as eppk|keratosis palmaris et plantaris familiaris|diffuse erythrodermic palmoplantar keratoderma, vÖrner type|epidermolytic palmoplantar keratoderma of voerner|keratosis of greither|ppke|epidermolytic palmoplantar keratoderma of vÖrner|diffuse erythrodermic

Related symptoms:

  • Neoplasm
  • Abnormality of the dentition
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

Low match BASAN SYNDROME


Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).

BASAN SYNDROME Is also known as ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities

Related symptoms:

  • Flexion contracture
  • Syndactyly
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BASAN SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Clinodactyly

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Clinodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hyperkeratosis Diabetes mellitus Pneumonia Hyperhidrosis Generalized hypotonia Intellectual disability Hypothyroidism Short stature Scarring Brachydactyly Pes planus

Rare Symptoms - Less than 30% cases


Ketoacidosis Polydipsia Feeding difficulties Rod-cone dystrophy Anemia Failure to thrive in infancy Cryptorchidism Hypogonadism Autoimmune thrombocytopenia Gastroesophageal reflux Growth delay Hyperglycemia Scoliosis Hearing impairment Polyuria Syndactyly Thickened ears Polydactyly Blindness Kyphosis Hirsutism Hydroureter Precocious puberty Abnormal dermatoglyphics Increased body weight Recurrent otitis media Otitis media Growth hormone deficiency Single transverse palmar crease Hemolytic anemia Respiratory tract infection Renal insufficiency Postnatal growth retardation Feeding difficulties in infancy Abnormality of the kidney Cognitive impairment Jaundice Visual loss Patent ductus arteriosus Depressivity Dilatation Palmoplantar keratoderma Strabismus Nyctalopia Epidermal acanthosis Thrombocytopenia Type I diabetes mellitus Chronic diarrhea Retinal degeneration Asthma Malabsorption Lymphadenopathy Camptodactyly Ptosis Respiratory failure Posteriorly rotated ears Splenomegaly Diarrhea Hepatomegaly Abnormal facial shape Retinal dystrophy Thickened skin Immunodeficiency Hepatitis Vomiting Cough Flexion contracture Peripheral neuropathy Motor delay Male hypogonadism Severe sensorineural hearing impairment Pulmonary arterial hypertension Decreased HDL cholesterol concentration Hypertriglyceridemia Peripheral visual field loss Retinal atrophy Menstrual irregularities Insulin-resistant diabetes mellitus Hypoventilation Thoracic scoliosis Involuntary movements High-frequency hearing impairment Recurrent urinary tract infections Left ventricular hypertrophy Pericarditis Subcapsular cataract Abnormal renal morphology Increased number of teeth Endocardial fibroelastosis Hyperuricemia Bronchitis Retinal pigment epithelial atrophy Ovarian cyst Restrictive cardiomyopathy Alopecia of scalp Chronic fatigue Oligospermia Myocarditis Myocardial fibrosis Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Tubulointerstitial nephritis Chronic obstructive pulmonary disease Hyperventilation Pendular nystagmus Glomerulopathy Cardiomegaly Esophageal varix Gingivitis Broad foot Posterior subcapsular cataract Oligomenorrhea Poor coordination Type II diabetes mellitus Glycosuria Abnormal retinal morphology Progressive sensorineural hearing impairment Polycystic ovaries Short toe Hypergonadotropic hypogonadism Recurrent pneumonia Horizontal nystagmus Generalized hirsutism Lipodystrophy Hyperinsulinemia Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Goiter Gynecomastia Cone/cone-rod dystrophy Hypogonadotrophic hypogonadism Nephrocalcinosis Tachypnea Absence seizures Hypercholesterolemia Pancreatitis Hyperlipidemia Atherosclerosis Acanthosis nigricans Macular degeneration Portal hypertension Sinusitis Agenesis of permanent teeth Emphysema Short finger Anorexia Abnormality of retinal pigmentation Polyphagia Chorioretinal atrophy Pericardial effusion Accelerated skeletal maturation Insulin resistance Truncal obesity Urinary urgency Pulmonary fibrosis Decreased liver function Nephritis Glucose intolerance Hepatic fibrosis Diabetes insipidus Hyperpigmentation of the skin Hyperostosis Acne Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Chronic otitis media Disinhibition Abnormality of dental color Abnormal renal physiology Barrett esophagus Abnormality of the fingernails Eczema Overgrowth Nevus Erythema Neoplasm External genital hypoplasia Anosmia Renal cyst Reduced visual acuity Esophageal carcinoma Esophageal ulceration Clinodactyly of the 5th toe Erythroderma Esophagitis Chest pain Nausea and vomiting Dysphagia Abnormal erythrocyte morphology Leukopenia Leukemia Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Palmoplantar hyperkeratosis Clubbing Abnormal retinal artery morphology Abnormal blistering of the skin Cutaneous syndactyly of toes Amniotic constriction ring Aplasia cutis congenita Skin vesicle Hypermelanotic macule Milia Epiphora Overfolded helix Cutaneous syndactyly Hypohidrosis Thin skin Interphalangeal joint contracture of finger Ectodermal dysplasia Congenital ichthyosiform erythroderma Tapered finger Nail dystrophy Papule Skin rash Localized epidermolytic hyperkeratosis Palmoplantar erythema Nonepidermolytic palmoplantar keratoderma Palmoplantar blistering Congenital bullous ichthyosiform erythroderma Increased IgE level Verrucae Follicular hyperkeratosis Ovarian neoplasm Precocious puberty in females Widely-spaced incisors Abnormal left ventricle morphology Bull's eye maculopathy Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Multinodular goiter Epigastric pain Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Pigmentary retinopathy Abnormal chorioretinal morphology Recurrent cystitis Childhood-onset truncal obesity Glue ear Unilateral breast hypoplasia Dilatation of the bladder Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Multifocal atrial tachycardia Urethral stricture ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Optic disc pallor Conductive hearing impairment Cyanosis Hydronephrosis Joint hypermobility Astigmatism Anal atresia Abnormal cardiac septum morphology Coloboma Paralysis Protruding ear Abnormality of the pinna Intellectual disability, moderate Joint laxity Anxiety Hypoglycemia Wide nose Macrotia Micropenis Severe short stature Abnormal heart morphology Hypospadias Hernia Recurrent infections Intellectual disability, mild Atrial septal defect Ventricular septal defect Abnormality of the skeletal system Myopia Polymicrogyria Highly arched eyebrow Epicanthus Abnormal vertebral morphology Bundle branch block Preauricular pit Bilateral cryptorchidism Cupped ear Brittle hair Poor suck Abnormality of the urinary system Purpura Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Sparse and thin eyebrow Cafe-au-lait spot Hypodontia Long eyelashes Renal dysplasia Heterotopia Small nail Blue sclerae Coarctation of aorta Congenital diaphragmatic hernia Microdontia Decreased antibody level in blood Dental malocclusion Prominent nose Intestinal malrotation Wide nasal bridge High palate Celiac disease Macrocephaly Muscle weakness Interstitial pneumonitis Chronic lung disease Prominent occiput Relative macrocephaly Abnormal intestine morphology Short chin Abnormal lung morphology Dolichocephaly Proptosis Frontal bossing Low-set ears Anteverted nares Lymphadenitis Periorbital edema Recurrent viral infections Episodic fever Combined immunodeficiency Vasculitis Subcutaneous nodule Inflammatory abnormality of the skin Bifid uvula Everted lower lip vermilion Edema Fever Intrauterine growth retardation Short nose Cleft palate Prominent metopic ridge Muscular hypotonia Micrognathia Microcephaly Clinodactyly of the 4th finger Elevated hemoglobin A1c Transient neonatal diabetes mellitus Beta-cell dysfunction Pancreatic hypoplasia Limb joint contracture Autoimmune antibody positivity Mild global developmental delay Aspiration pneumonia Abnormality of the immune system Long philtrum Abnormality of the ear Radial deviation of finger Bilateral ptosis Aspiration Progressive neurologic deterioration Hypsarrhythmia Dehydration Downturned corners of mouth Confusion Small for gestational age Muscular hypotonia of the trunk Abnormality of the nervous system Right bundle branch block Long palpebral fissure Specific learning disability Weight loss Pallor Irritability Proteinuria Myalgia Elevated hepatic transaminase Deeply set eye Photophobia Hepatosplenomegaly Kyphoscoliosis Dyspnea Autism Abdominal pain Abnormality of the liver Myoclonus Recurrent respiratory infections Alopecia Constipation Hyporeflexia Encephalopathy Dystonia Behavioral abnormality Congestive heart failure Cardiomyopathy Respiratory distress Short neck Autistic behavior Sparse hair Fatigue Tachycardia Progressive visual loss Decreased testicular size Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Abdominal distention Ascites Sleep disturbance Nephropathy Hepatic steatosis Hepatic failure Cirrhosis Retinopathy Nausea Stage 5 chronic kidney disease Dry skin Infertility Delayed puberty Carious teeth Pulmonic stenosis Ophthalmoplegia Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Dilated cardiomyopathy Respiratory insufficiency Optic atrophy Severe hearing impairment Depressed nasal tip Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Short columella Bronchomalacia Patellar dislocation Vitiligo Scaphocephaly Overweight Hashimoto thyroiditis Anal stenosis IgA deficiency Thyroiditis Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Diaphragmatic eventration Biliary atresia Hypertension Short nasal septum Visual impairment Delayed speech and language development Cataract Pain Sensorineural hearing impairment Nystagmus Ataxia Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Eversion of lateral third of lower eyelids Prominent fingertip pads Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Recurrent aspiration pneumonia Adermatoglyphia



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